Search unique variants - LOVD - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the PORCN database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the PORCN full legend here.

119 entries
entries per page

Exon

DNA change

RNA change

Protein

Variant Original description

Type

Variant remarks

DB-ID

Origin

X_inactivation

Reference

Detection/Template

Detection/Technique


-	deletion	r.(?)	deletion PORCN and EBP +?	-	Deletion	-	PORCN_00115	? (unknown)	not documented	Patrizi et al. 2012	DNA	MAPH
-	Deletion ex 1-4	r.(?)	del PORCN	-	deletion	-	PORCN_00064	sporadic	83/17	Bornholdt et al. 2009	DNA	array CGH/MAPH
-	Deletion ex 1-8 (Reported 2 times)	r.(?)	del PORCN	-	Deletion	mosaic	PORCN_00119	? (unknown)	unknown	Sellars et al. 2013	DNA	arrayCGH
-	Microdeletion 1	r.(?)	del PORCN	-	deletion	-	PORCN_00065	sporadic	98/2	Bornholdt et al. 2009	DNA	array CGH/MAPH
-	Microdeletion 2	r.(?)	del PORCN	-	deletion	-	PORCN_00066	sporadic	100/0	Bornholdt et al. 2009	DNA	MAPH
-	Microdeletion 3	r.(?)	del PORCN	-	deletion	-	PORCN_00067	Familial	100/0	Bornholdt et al. 2009	DNA	MAPH
-	~219 kb deletion	r.(?)	del PORCN	-	deletion	mother and sister affected by history	PORCN_00071	unknown	100/0	Wang et al. 2007	DNA	qPCR,arrayCGH, FISH
-	112 kb del	r.(?)	del PORCN	-	Deletion	phenotype is angioma serpiginosum	PORCN_00075	familial	100/0	Houge, 2008	DNA	arrayCGH
-	137.411 bp deletion	r.(?)	del SLC38A5, FTSJ1, PORCN,EBP and OATL1	-	deletion	-	PORCN_00068	Familial	95/5	Grzeschik et al. 2007	DNA	array CGH/MAPH
-	150 kb del	r.(?)	del PORCN	-	deletion	-	PORCN_00073	de novo	non informative	Froyen et al. 2009	DNA	array CGH
-	219 kb deletion	r.(?)	del PORCN	-	deletion	-	PORCN_00072	de novo	100/0	Wang et al. 2007	DNA	arrayCGH,FISH,qPCR
-	364.864 bp deletion	r.(?)	del SLC38A5, FTSJ1, PORCN,EBP	-	deletion	-	PORCN_00069	Familial	99/1	Grzeschik et al. 2007	DNA	array CGH/MAPH
-	377.520 bp deletion	r.(?)	del PORCN	-	deletion	-	PORCN_00070	Familial	97/3	Grzeschik et al. 2007	DNA	array CGH/MAPH
-	502 kb deletion	r.(?)	del PORCN +?	-	Deletion	mutation inherited from mildly affected mother	PORCN_00078	familial	99/1	Lombardi et al, 2011	DNA	arrayCGH
02	c.1A>G	r.(?)	p.Met1?	-	missense	-	PORCN_00001	de novo	not available	Lombardi et al, 2011	DNA	SEQ
02	c.3G>A	r.(?)	p.Met1?	p.Met1Ile	missense	-	PORCN_00002	sporadic	79/21	Bornholdt et al. 2009	DNA	SEQ
02	c.49dupT	r.(?)	p.Cys17LeufsX11	-	frameshift	-	PORCN_00003	de novo	54/46	Harmsen et al. 2009	DNA	SEQ
02	c.53dupT	r.(?)	p.Leu19ProfsX9	p.Leu18LeufsX10	frameshift	-	PORCN_00004	de novo	50/50	Wang et al. 2007	DNA	SEQ
02	c.74delG	r.(?)	p.Gly25AlafsX27	-	frameshift	-	PORCN_00005	unknown (adopted)	66.6/33.4	Clements et al. 2009	DNA	SEQ
02	c.108C>A	r.(?)	p.C36X	-	Substitution	-	PORCN_00082	? (unknown)	not available	Fernandes et al, 2010	DNA	SEQ
02	c.129G>A (Reported 2 times)	r.(?)	p.Trp43X	-	Substitution	truncation, detected in blood	PORCN_00099	de novo, somatic mosaicism	-	Yoshihashi et al. 2010	DNA	SEQ
02i	c.136+1G>A	r.(?)	p.?	IVS2+1G>A	Substitution	splicing defect	PORCN_00098	? (unknown)	not available	Kapoor et al. 2012	DNA	SEQ
02i	c.136+2delT	r.(?)	p.?	-	Substitution	splicing defect	PORCN_00083	? (unknown)	not available	Fernandes et al, 2010	DNA	SEQ
02i	c.137-3A>G	r.(?)	p.?	-	Substitution	splicing defect predicted with in silico analysis	PORCN_00105	? (unknown)	not available	unpublished	DNA	SEQ
03	c.166_167dup (Reported 2 times)	r.(?)	p.Val57ProfsX60	-	frameshift	-	PORCN_00006	unknown	83/17	Harmsen et al. 2009	DNA	SEQ
03	c.178G>A (Reported 7 times)	r.(?)	p.Gly60Arg	-	missense	-	PORCN_00007	mother low level mosaicism	63/37	Wang et al. 2007	DNA	SEQ
03	c.221G>A	r.(?)	p.Trp74X	-	nonsense	-	PORCN_00008	de novo	76/24	Harmsen et al. 2009	DNA	SEQ
03	c.222G>A	r.(?)	p.Trp74X	-	nonsense	-	PORCN_00009	sporadic	65/35	Grzeschik et al. 2007	DNA	SEQ
03	c.268C>T (Reported 4 times)	r.(?)	p.Arg90X	-	nonsense	-	PORCN_00010	unknown	81/19	Wang et al. 2007	DNA	SEQ
03	c.283C>T (Reported 3 times)	r.(?)	p.Arg95X	-	nonsense	-	PORCN_00011	sporadic	55/45	Bornholdt et al. 2009	DNA	SEQ
03i	c.330-27del	r.(?)	p.?	c.330-27delG	Deletion	predicted to be benign with in silico analysis	PORCN_00101	? (unknown)	non available	Fernandes et al. 2010	DNA	SEQ
03i	c.330-11T>A	r.(?)	p.?	-	Substitution	possible begnin	PORCN_00100	? (unknown)	not available	Fernandes et al. 2010	DNA	SBE
03	c.360G>A	r.(?)	p.Trp120X	-	Substitution	mosaic	PORCN_00084	-	-	Fernandes et al. 2010	DNA	SEQ
04	c.370C>T (Reported 5 times)	r.(?)	p.Arg124X	-	nonsense	mosaic	PORCN_00012	de novo	-	Wang et al. 2007	DNA	SEQ
04	c.373G>A	r.=	p.Gly125Arg	-	Substitution	-	PORCN_00081	? (unknown)	non documented	unpublished	DNA	SEQ
04i	c.373+1G>A	r.(?)	p.?	-	splicing	-	PORCN_00013	de novo	61/39	Leoyklang et al. 2009	DNA	SEQ
04i	c.374-46T>A	r.(?)	p.?	-	splicing	-	PORCN_00016	unknown	86/14	Harmsen et al. 2009	DNA	SEQ
04i	c.374-15T>A (Reported 2 times)	r.(?)	p.?	-	splicing	-	PORCN_00015	de novo (inferred)	not available	Schaffer et al. 2009	DNA	SEQ
04i	c.374-1G>A	r.(?)	p.?	-	splicing	-	PORCN_00014	sporadic	84/16	Bornholdt et al. 2009	DNA	SEQ
5	c.387del	r.(?)	-	in frame insertion 8 amino acids	Deletion	mRNA analysis shows a 13bp insertion created by an alternative splicing site	PORCN_00118	? (unknown)	slightly skewed pattern in lesional skin	Nakanishi et al. 2013	DNA	SEQ
05	c.407C>T	r.(?)	p.Ser136Phe	-	missense	-	PORCN_00017	sporadic	57/43	Bornholdt et al. 2009	DNA	SEQ
05	c.479dupA	r.(?)	p.Tyr160X	-	nonsense	-	PORCN_00018	de novo	52/48	Wang et al. 2007	DNA	SEQ
05	c.502G>A (Reported 4 times)	r.(?)	p.Gly168Arg	-	missense	postzygotic mosaic	PORCN_00019	sporadic	-	Bornholdt et al. 2009	DNA	SEQ
05	c.509G>A (Reported 2 times)	r.(?)	p.Trp170X	-	nonsense	-	PORCN_00020	unknown	not available	Maas et al. 2009	DNA	SEQ
05i	c.555+4A>G	r.(?)	p.?	-	Substitution	splicing defect	PORCN_00094	? (unknown)	not available	Fernandes et al. 2010	DNA	SEQ
05i	c.556-1G>C	r.(?)	p.?	-	Substitution	splicing defect	PORCN_00085	-	not available	Fernandes et al. 2010	DNA	SEQ
06	c.566G>A	r.(?)	p.Trp189X	-	Substitution	truncation	PORCN_00086	? (unknown)	not available	Fernandes et al. 2010	DNA	SEQ
06	c.571C>T	r.(?)	p.Gln191X	-	nonsense	postzygotic mosaic	PORCN_00021	unknown	-	Maas et al. 2009	DNA (fibroblasts)	SEQ
06	c.576delG (Reported 2 times)	r.(?)	p.Val193TrpfsX47	-	frameshift	same as c.577delG	PORCN_00022	de novo	65/35	Wang et al. 2007	DNA	SEQ
06	c.584_601del	r.(?)	p.Arg195_Ala200del	-	Deletion	in-frame deletion	PORCN_00106	de novo, in patient	not available	unpublished	DNA	SEQ
06	c.637delT	r.(?)	p.Tyr213ThrfsX27	-	frameshift	-	PORCN_00023	de novo	not available	Maas et al. 2009	DNA	SEQ
06	c.670dup	r.(?)	p.Asp224GlyfsX92	-	Duplication	-	PORCN_00087	? (unknown)	not available	Fernandes et al. 2010	DNA	SEQ
06	c.682C>T	r.(?)	p.Arg228Cys	-	missense	inherited from unaffected mother	PORCN_00024	familial	82/18	Leoyklang et al. 2009	DNA	SEQ
08i	c.719+15C>T (Reported 2 times)	r.(?)	p.?	-	Substitution	possible splicing defect predicted with in silico analysis, inherited from mildly affected mother AMC_22	PORCN_00109	familial	65/35	unpublished	DNA	SEQ
08i	c.720-28C>T	r.(?)	p.?	-	Substitution	Predicted possible benign with in silico analysis	PORCN_00102	? (unknown)	not available	Fernandes et al. 2010	DNA	SEQ
08i	c.720-2A>T	r.(?)	p.?	-	splicing	-	PORCN_00025	sporadic	55/45	Grzeschik et al. 2007	DNA	SEQ
09	c.727C>T (Reported 5 times)	r.(?)	p.Arg243X	-	nonsense	-	PORCN_00026	sporadic	65/35	Grzeschik et al. 2007	DNA	SEQ
09	c.737dup	r.(?)	p.Ser247GlufsX69	c.737_738insA; p.Ser247GlufsX315	frameshift	-	PORCN_00028	de novo	82/18	Leoyklang et al. 2009	DNA	SEQ
09	c.754C>T	r.(?)	p.His252Tyr	-	missense	-	PORCN_00027	de novo	not available	Lombardi et al, 2011	DNA	SEQ
09	c.773T>A	r.(?)	p.Val258Glu	-	missense	-	PORCN_00029	sporadic	82/18	Bornholdt et al. 2009	DNA	SEQ
9	c.785C>A	r.?	p.Ser262Tyr	-	Substitution	-	PORCN_00113	? (unknown)	not documented	unpublished	DNA	SEQ
09	c.787G>A	r.(?)	p.Glu263Lys	-	-	-	PORCN_00107	? (unknown)	not available	unpublished	DNA	SEQ
09	c.787_792dup	r.(?)	p.Glu263_Ala264dup	p.Glu262_Ala263dup	insertion/duplication	-	PORCN_00030	de novo	90/10	Wang et al. 2007	DNA	SEQ
09	c.815_816dup	r.(?)	p.Phe273AlafsX13	c.816_817insGC; p.Phe273fsX284	frameshift	postzygotic mosaic	PORCN_00031	sporadic	60/40	Grzeschik et al. 2007	DNA	SEQ
09i	c.845+1G>C	r.(?)	-	-	-	-	PORCN_00077	? (unknown)	not available	Lombardi et al, 2011	DNA	SEQ
i9	c.845+2T>G	r.?	-	-	Substitution	splicing	PORCN_00112	? (unknown)	unknown	unpublished	DNA	SEQ
9	c.853_855delACG	-	p.Thr285del	-	Deletion	-	PORCN_00116	de novo, somatic mosaicism	-	Peters et al., 2014	DNA	PCR
10	c.846G>A	r.(?)	p.Trp282X	-	nonsense/splicing	-	PORCN_00032	unknown	non informative	Clements et al. 2009	DNA	SEQ
10	c.846_879del34	r.(?)	p.Trp282CysfsX21	p.Trp282fsX302	frameshift	-	PORCN_00033	sporadic	62/38	Bornholdt et al. 2009	DNA	SEQ
10	c.854_855ins	r.(?)	p.Thr285fsX316	c.854_855insACCTGAC	Insertion	frameshift/truncation	PORCN_00097	? (unknown)	random Xi in blood and unaffected skin, skewed in affected skin	Maalouf et al. 2012	DNA	SEQ
10	c.886delC	r.(?)	p.Arg296GlyfsX18	-	-	postzygotic mosaicism, not detected in mother detected in blood	PORCN_00080	? (unknown)	-	Vreeburg et al. 2010	DNA	SEQ
10	c.890C>T (Reported 2 times)	r.(?)	p.Ser297Leu	-	missense	-	PORCN_00034	de novo	not available	Maas et al. 2009	DNA	SEQ
10	c.898G>T	r.(?)	p.Glu300X	-	nonsense	-	PORCN_00035	de novo	not available	Clements et al. 2008	DNA	SEQ
10	c.914G>A	r.(?)	p.Trp305X	-	nonsense	-	PORCN_00036	unknown	not available	Lombardi et al, 2011	DNA	SEQ
10	c.924delC	r.(?)	p.Met309CysfsX5	p.308fsX313	frameshift	-	PORCN_00037	sporadic	80/20	Grzeschik et al. 2007	DNA	SEQ
10	c.935G>A	r.(?)	p.Trp312X	-	nonsense	-	PORCN_00038	sporadic	non informative	Bornholdt et al. 2009	DNA	SEQ
10	c.938T>G (Reported 2 times)	r.(?)	p.Leu313Arg	-	Substitution	inherited from mildly affected mother AMC_22	PORCN_00108	familial	65/35	Contreras-Capetillo et al., 2013	DNA	SEQ
10i	c.946+1G>A	r.(?)	p.?	-	Substitution	splicing defect	PORCN_00088	? (unknown)	non available	Fernandes et al. 2010	DNA	SEQ
10i	c.947-2A>C (Reported 2 times)	r.(?)	p.?	-	splicing	-	PORCN_00039	familial	95/5	Maas et al. 2009	DNA	SEQ
10i	c.947-1G>C	r.(?)	p.?	-	splicing	-	PORCN_00040	unknown	not available	Lombardi et al, 2011	DNA	SEQ
11	c.992T>G	r.(?)	p.Leu331Arg	-	missense	-	PORCN_00041	de novo	94/6	Froyen et al. 2009	DNA	SEQ
11	c.1012G>C	r.?	p.Ala338Pro	-	Substitution	-	PORCN_00111	de novo	unknown	unpublished	DNA	SEQ
11	c.1021C>T	r.(?)	p.His341Tyr	-	Substitution	-	PORCN_00089	de novo	non available	Fernandes et al. 2010	DNA	SEQ
11	c.1022A>T	r.(?)	p.His341Leu	-	missense	-	PORCN_00042	sporadic	50/50	Bornholdt et al. 2009	DNA	SEQ
11i	c.1024-2A>G	r.(?)	-	-	-	-	PORCN_00076	? (unknown)	not available	Lombardi et al, 2011	DNA	SEQ
11i	c.1024-1G>A	r.(?)	p.?	-	Substitution	splicing defect	PORCN_00104	? (unknown)	non available	unpublished	DNA	SEQ
12	c.1040T>C	r.(?)	p.Leu347Pro	-	Substitution	-	PORCN_00095	? (unknown)	not available	Fernandes et al. 2010	DNA	SEQ
12	c.1045_1065del21	r.(?)	p.Ala349_Ala355del	-	in-frame deletion	-	PORCN_00043	unknown	50/50	Wang et al. 2007	DNA	SEQ
12	c.1047_1054dup	r.(?)	p.Leu352ArgfsX50	-	Duplication	frameshift/truncation, detected in blood	PORCN_00110	? (unknown)	-	unpublished	DNA	SEQ
12	c.1059_1071dup13 (Reported 2 times)	r.(?)	p.Thr358ProfsX65	-	frameshift	-	PORCN_00044	father mosaic for mutation	non informative	Wang et al. 2007	DNA	SEQ
12	c.1061_1062insAGGACCCT	r.(?)	p.Ala355GlyfsX47	p.L354fsX401	frameshift	postzygotic mosaic	PORCN_00074	sporadic	non informative	Grzeschik et al. 2007	DNA	SEQ
12	c.1064_1081del18	r.(?)	p.Ala355_Val360del	p.Ala355_Val360del6	in-frame deletion	mosaic	PORCN_00045	de novo	-	Wang et al. 2007	DNA	SEQ
12	c.1076dup	r.(?)	p.Tyr359X	-	Duplication	truncation	PORCN_00090	? (unknown)	not available	Fernandes et al. 2010	DNA	SEQ
12	c.1077C>A	r.(?)	p.Tyr359X	-	nonsense	-	PORCN_00046	familial	96/4	Bornholdt et al. 2009	DNA	SEQ
12	c.1077C>G	r.(?)	p.Tyr359X	-	-	mutation not detected in mother, father not available	PORCN_00079	? (unknown)	100/0	Dias et al. 2010	DNA	SEQ
12	c.1082A>T	r.(?)	p.Glu361Val	-	missense	-	PORCN_00047	de novo	32/38	Harmsen et al. 2009	DNA	SEQ
13	c.1093C>G (Reported 2 times)	r.(?)	p.Arg365Gly	-	missense	mosaic	PORCN_00048	de novo	-	Wang et al. 2007	DNA	SEQ
13	c.1094G>A (Reported 9 times)	r.(?)	p.Arg365Gln	-	missense	postzygotic mosaic	PORCN_00049	sporadic	non informative	Bornholdt et al. 2009	DNA	SEQ
13	c.1106C>T	r.(?)	p.Ala369Val	-	Substitution	-	PORCN_00096	-	not available	Fernandes et al. 2010	DNA	SEQ
13	c.1110delG	r.(?)	p.Ile371SerfsX28	p.Arg370fsX398	frameshift	postzygotic mosaic	PORCN_00050	sporadic	-	Bornholdt et al. 2009	DNA	SEQ

1 - 100
[<-] 1 2 [->]

Legend: [ PORCN full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Variant Original description: Original report Type: Type of variant at DNA level. Variant remarks: Variant remarks PORCN DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Origin: Origin X_inactivation: X skewing Reference: Reference Detection/Template: Detection/Template Detection/Technique: Detection/Technique

LOVD - Leiden Open Variation Database

porcupine homolog (Drosophila) (PORCN)