LOVD - Variant listings for PCNT

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16 entries
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Exon Hide Exon column Descending
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DNA change   Descending
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Var_pub_as Hide Var_pub_as column Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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DB-ID Hide DB-ID column Descending
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Variant remarks Hide Variant remarks column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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Frequency Hide Frequency column Descending
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Re-site Hide Re-site column Descending
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Genetic origin Hide Genetic origin column Descending
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4 c.658G>T
  (Reported 4 times)
- r.(?) p.(Glu220*) PCNT_00014 - Elen Griffith et al, 2008 DNA SEQ - - -
11 c.1753C>T
  (Reported 2 times)
- r.(?) p.(Arg585*) PCNT_00001 - Willems et al. 2009 DNA SEQ - Tsp45I+;Bpu10I- -
12 c.1887delA
  (Reported 2 times)
- r.(?) p.(Ala630Hisfs*66) PCNT_00015 - Elen Griffith et al, 2008 DNA SEQ - - -
14 c.2326_2327del
  (Reported 2 times)
2326_2327delGA r.(?) p.(Glu776Lysfs*3) PCNT_00002 - Willems et al. 2009 DNA SEQ - - -
15 c.3109G>T
  (Reported 2 times)
Glu1037X r.(?) p.(Glu1037*) PCNT_00003 - Willems et al. 2009 DNA SEQ - DdeI+ -
16 c.3271_3272del
  (Reported 2 times)
3271_3272delTT (Leu1091Valfs*101) r.(?) p.(Leu1091Valfs*102) PCNT_00004 - Willems et al. 2009 DNA SEQ - - -
17 c.3382C>G
  (Reported 2 times)
- r.(?) p.(Gln1128Glu ) PCNT_00005 - Willems et al. 2009 DNA SEQ - - -
18 c.3568dupT
  (Reported 2 times)
3568_3569insT r.(?) p.(Cys1190Leufs*4) PCNT_00016 - Elen Griffith et al, 2008 DNA SEQ - - -
18i c.3608-2A>G
  (Reported 2 times)
- r.spl? p.(?) PCNT_00012 probably affecting splicing Willems et al. 2009 DNA SEQ - NlaIV+;AluI- -
19 c.3840G>C
  (Reported 2 times)
- r.(spl?) p.(Gln1280His?) PCNT_00006 might affect splicing (Pro1204Glyfs*11) Willems et al. 2009 DNA SEQ - BsaAI+;HphI- -
28 c.5266dupA
  (Reported 2 times)
- r.(?) p.(Met1756Asnfs*53) PCNT_00007 - Willems et al. 2009 DNA SEQ - FatI- -
28 c.5578G>T
  (Reported 2 times)
- r.(?) p.(Glu1860*) PCNT_00008 - Willems et al. 2009 DNA SEQ - DdeI+;BstBI- -
30 c.6176_6189del
  (Reported 2 times)
6176_6189delGTCAGCTGCCGAAG r.(?) p.(Gln2060Argfs*48) PCNT_00009 - Willems et al. 2009 DNA SEQ - TseI- -
30 c.(6316)_6325del
  (Reported 2 times)
6316_6325delGTTTGGAGAGCA r.(?) p.(Leu2106Alafs*18) PCNT_00010 GTTTGGAGAGCA first 2 nucleotides not in reference sequence Willems et al. 2009 DNA SEQ - MwoI+;Fnu4HI- -
34 c.7338C>A
  (Reported 2 times)
- r.(?) p.(Cys2446*) PCNT_00011 - Willems et al. 2009 DNA SEQ - Tsp45I+;Cac8I- -
40i c.9099+2T>C
  (Reported 2 times)
- r.spl? p.(?) PCNT_00013 probably affecting splicing Willems et al. 2009 DNA SEQ - - -
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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.
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