LOVD - Variant listings for PCNT

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+/? 4 c.658G>T
    + c.658G>T
- r.(?) p.(Glu220*) PCNT_00014 - Elen Griffith et al, 2008 DNA SEQ - - - SCKL1 - Normal skeletal survey. Receding forehead, high nasal bridge, prominent nose, retrognathia. 5th finger clinodactyly. Proportionate short stature. Motor delay. MRI: thin corpus callosum, increased extra-axial spaces. Reduced white matter. 46XY. Elen Griffith et al, 2008 Saudi Arabia - familial - 3 - - 1
+/? 4 c.658G>T
    + c.658G>T
- r.(?) p.(Glu220*) PCNT_00014 - Elen Griffith et al, 2008 DNA SEQ - - - SCKL1 - Receding forehead, peaked prominent nose, microretrognathia. Short neck, low posterior hairline. Some areas of skin hyperpigmentation. Significant learning difficulties. Dysplastic hips, unequal femur length. Myopia. Short mid-phalanges. Diabetes Mellitus. 46XX. Elen Griffith et al, 2008 Saudi Arabia - familial - 13 - - 1
+/? 11 c.1753C>T
    + c.1753C>T
- r.(?) p.(Arg585*) PCNT_00001 - Willems et al. 2009 DNA SEQ - Tsp45I+;Bpu10I- - SCKL1 - Microdontia, Pyelic ectasia Willems et al. 2009 Morocco - unknown - ? ? Mild 1
+/? 12 c.1887delA
    + c.1887delA
- r.(?) p.(Ala630Hisfs*66) PCNT_00015 - Elen Griffith et al, 2008 DNA SEQ - - - SCKL1 - Prominent nose, small ears, receding forehead and chin. Short philtrum. Deep voice, small ‘broken’ teeth. No abnormal pigmentation. Proportionate short stature. Normal skeletal survey with minor scoliosis. Slightly advanced bone age. 46XX. IQ 44. Growth Hormone levels normal Elen Griffith et al, 2008 Kuwait - familial - 13 - - 1
+/? 14 c.2326_2327del
    + c.2326_2327del
2326_2327delGA r.(?) p.(Glu776Lysfs*3) PCNT_00002 - Willems et al. 2009 DNA SEQ - - - MOPD2 - Café au lait spots. Moyamoya disease complicated with rupture of CNS vessels. Willems et al. 2009 Algeria - unknown - ? ? Mild 1
+/? 15 c.3109G>T
    + c.3109G>T
Glu1037X r.(?) p.(Glu1037*) PCNT_00003 - Willems et al. 2009 DNA SEQ - DdeI+ - MOPD2 - Poor sucking.Vomiting. Hyperlaxity. Horseshoe kidney.Hypertonia. Subglottic stenosis. Recurrent upper respiratory tract infections. Micropenis High squeaky, nasal voice Willems et al. 2009 Turkey - unknown - ? ? Mild 1
+/? 16 c.3271_3272del
    + c.3271_3272del
3271_3272delTT (Leu1091Valfs*101) r.(?) p.(Leu1091Valfs*102) PCNT_00004 - Willems et al. 2009 DNA SEQ - - - SCKL1 - Horseshoe kidney. Clinodactyly of fifth finger. Rupture of CNS vessels leading to death (20 years) Willems et al. 2009 France - unknown - ? ? Mild 1
+/? 17 c.3382C>G
    + c.3382C>G
- r.(?) p.(Gln1128Glu ) PCNT_00005 - Willems et al. 2009 DNA SEQ - - - MOPD2 - - Willems et al. 2009 Morocco - unknown - ? ? No 1
+/? 18 c.3568dupT
    + c.3568dupT
3568_3569insT r.(?) p.(Cys1190Leufs*4) PCNT_00016 - Elen Griffith et al, 2008 DNA SEQ - - - SCKL1 - Sloping forehead, prominent nose, retrognathia. Normal skeletal xrays, though significantly retarded bone age. IQ 50. Normal MRI brain. Elen Griffith et al, 2008 Morocco - familial - 3 - - 1
?/? 18i c.3608-2A>G
    + c.3608-2A>G
- r.spl? p.(?) PCNT_00012 probably affecting splicing Willems et al. 2009 DNA SEQ - NlaIV+;AluI- - MOPD2 - Micropenis. Café au lait spots . Livedo reticularis. Cirrhosis. High squeaky, nasal voice Willems et al. 2009 Italy - unknown - ? ? No 1
+/? 19 c.3840G>C
    + c.3840G>C
- r.(spl?) p.(Gln1280His?) PCNT_00006 might affect splicing (Pro1204Glyfs*11) Willems et al. 2009 DNA SEQ - BsaAI+;HphI- - SCKL1 - Café au lait spots, areas of depigmention Hepatic cytolysis. Subglottic stenosis Recurrent upper respiratory tract infections Willems et al. 2009 Morocco - unknown - ? ? No 1
+/? 28 c.5266dupA
    + c.5266dupA
- r.(?) p.(Met1756Asnfs*53) PCNT_00007 - Willems et al. 2009 DNA SEQ - FatI- - SCKL1 - Sparse scalp hair. Receding forehead. Prominent curved nose, Micrognatia. Low set ears. Clinodactyly. Highpitched voice. Stridor. Upper respiratory tract infections Willems et al. 2009 Lebanon - unknown - ? ? Yes 1
+/? 28 c.5578G>T
    + c.5578G>T
- r.(?) p.(Glu1860*) PCNT_00008 - Willems et al. 2009 DNA SEQ - DdeI+;BstBI- - MOPD2 - Anemia. Body asymmetry Radial head dislocation Willems et al. 2009 France - unknown - ? ? No 1
+/? 30 c.6176_6189del
    + c.6176_6189del
6176_6189delGTCAGCTGCCGAAG r.(?) p.(Gln2060Argfs*48) PCNT_00009 - Willems et al. 2009 DNA SEQ - TseI- - SCKL1 - Café au lait spots, area of depigmentation. Polycystic ovaries. Chromosomal breakage Willems et al. 2009 Pakistan - unknown - ? ? No 1
+/? 30 c.(6316)_6325del
    + c.(6316)_6325del
6316_6325delGTTTGGAGAGCA r.(?) p.(Leu2106Alafs*18) PCNT_00010 GTTTGGAGAGCA first 2 nucleotides not in reference sequence Willems et al. 2009 DNA SEQ - MwoI+;Fnu4HI- - MOPD2 - Hypertonia. Micropenis. Willems et al. 2009 Morocco - unknown - ? ? Severe 1
+/? 34 c.7338C>A
    + c.7338C>A
- r.(?) p.(Cys2446*) PCNT_00011 - Willems et al. 2009 DNA SEQ - Tsp45I+;Cac8I- - MOPD2 - High squeaky voice. Caféau- lait spots. Willems et al. 2009 Morocco - unknown - ? ? No 1
?/? 40i c.9099+2T>C
    + c.9099+2T>C
- r.spl? p.(?) PCNT_00013 probably affecting splicing Willems et al. 2009 DNA SEQ - - - MOPD2 - Poïkilodermia. Atrial septal defect. Willems et al. 2009 Sri Lanka - unknown - ? ? ? 1
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Legend: [ PCNT 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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9 DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Var_pub_as: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. PCNT DB-ID: BD-ID = database IDentifier Variant remarks: Variant remarks Reference: Reference = reference to publication describing variant Template: Detection_Template Technique: Technique Frequency: Frequency if variant is non pathogenic. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Genetic origin: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Phenotype additional: Phenotype, additional features Remarks: Remarks Reference: Reference describing the phenotype Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Age_exam: age at which the individual was examined; 4y8m = 4 years and 8 months Age_onset: age at which the disease became evident; 4y8m = 4 years and 8 months MR: MR # Reported: Number of times this case has been reported