SMOC1 Database – Homepage

Last update: October 27, 2016

Please, take a look to the readnote before proceeding.


SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2

Pathological Phenotypes: 1


Microphthalmia with limb anomalies
OMIM: #206920

Microphthalmia with limb anomalies is caused by homozygous mutations in the SMOC1 gene. Distinctive features are unilateral or bilateral anophthalmia with limb anomalies. Intellectual disabilities is also a common feature. The most common limb anomalies are toe syndactyly, oligodactyly, metacarpal synostosis, camptodactyly and finger syndactyly. Less commonly patients can show also other types of abnormalities like bowed tibia, synostosis of carpals/tarsals, sandal gap and finger clinodactyly.

Prevalence: unknown


Affected individuals listed: 18

Click here to visualize the curated SMOC1 clinical signs list.


Variant Stats

Most common pathogenic variant in general population
c. position rs number frequency
c.223C>T rs370866589 ExAC: T=3.295e-05 ESP: T=0.000077 1000GP: not reported

Number of variants: 13

Exonic: 12

  • Stopgain: 5
  • Stoploss: 0
  • Frameshift: 2
  • Non synonymous: 3
  • Synonymous: 0

Intronic: 3

  • AG/GT: 3
  • Consensus sequence: 0
  • Intronic: 0

Gross deletions/duplications (whole gene and intragenic del/dupl): 0

  • Gross deletions: 0
  • Gross duplications:0

 

c. position p. position exon/intron rs number GRCh37/hg19 GRCh38/hg38 other names Interpretation
GO! c.211C>T (p.Arg71*) Exon 2 rs532566349 Chr14:70418966 Chr14:69952249 c.212C>T Pathogenic
GO! c.223C>T (p.Arg75*) Exon 2 rs370866589 Chr14:70418978 Chr14:69952261 c.224C>T Pathogenic
GO! c.274C>T (p.Gln92*) Exon 3 rs781216969 Chr14:70420145 Chr14:69953428 c.275C>T Pathogenic
GO! c.378+1G>T Intron 3 no rs number Chr14:70420250 Chr14:69953533 Pathogenic
GO! c.378+1G>A Intron 3 rs751356341 Chr14:70420250 Chr14:69953533 Pathogenic
GO! c.395dupA (p.Tyr132fs*1) Exon 4 no rs number Chr14:70442448 Chr14:69975731 Pathogenic
GO! c.664+1G>A Intron 7 no rs number Chr14:70461198 Chr14:69994481 Pathogenic
GO! c.718C>T (Gln240*) Exon 8 rs376672665 Chr14:70477524 Chr14:70010807 Pathogenic
GO! c.832C>T (p.Arg278Cys) Exon 8 rs776638586 Chr14:70477638 Chr14:70010921 c.833C>T Pathogenic
GO! c.848C>A (p.Thr283Asn) Exon 8 no rs number Chr14:70477654 Chr14:70010937 Pathogenic
GO! c.857G>A (p.Arg286His) Exon 8 no rs number Chr14:70477663 Chr14:70010946 Pathogenic
GO! c.910delG (p.Asp305Metfs*59) Exon 9 no rs number Chr14:70478254 Chr14:70011537 c.911delG Pathogenic
GO! c.1108C>T (p.Gln370*) Exon 11 no rs number Chr14:70489981 Chr14:70023264 c.1109C>T Pathogenic

disclaimer
The information reported in this database is based exclusively on current literature. We cannot garantuee that the content is updated everytime. The information is provided exclusively only for research purposes and the authors of these reviews are not responsible if the reported information is used for clinical diagnostics purposes.

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