SMOC1 Database – Homepage

Please, take a look to the readnote before proceeding.

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. positionrs numberfrequency
c.223C>Trs370866589ExAC: T=3.295e-05ESP: T=0.0000771000GP: 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. positionp. positionexon/intronrs numberGRCh37/hg19GRCh38/hg38other namesInterpretation
GO!c.211C>T(p.Arg71*)Exon 2rs532566349Chr14:70418966Chr14:69952249c.212C>TPathogenic
GO!c.223C>T(p.Arg75*)Exon 2rs370866589Chr14:70418978Chr14:69952261c.224C>TPathogenic
GO!c.274C>T(p.Gln92*)Exon 3rs781216969Chr14:70420145Chr14:69953428c.275C>TPathogenic
GO!c.378+1G>TIntron 3no rs numberChr14:70420250Chr14:69953533Pathogenic
GO!c.378+1G>AIntron 3rs751356341Chr14:70420250Chr14:69953533Pathogenic
GO!c.395dupA(p.Tyr132fs*1)Exon 4no rs numberChr14:70442448Chr14:69975731Pathogenic
GO!c.664+1G>AIntron 7no rs numberChr14:70461198Chr14:69994481Pathogenic
GO!c.718C>T(Gln240*)Exon 8rs376672665Chr14:70477524Chr14:70010807Pathogenic
GO!c.832C>T(p.Arg278Cys)Exon 8rs776638586Chr14:70477638Chr14:70010921c.833C>TPathogenic
GO!c.848C>A(p.Thr283Asn)Exon 8no rs numberChr14:70477654Chr14:70010937Pathogenic
GO!c.857G>A(p.Arg286His)Exon 8no rs numberChr14:70477663Chr14:70010946Pathogenic
GO!c.910delG(p.Asp305Metfs*59)Exon 9no rs numberChr14:70478254Chr14:70011537c.911delGPathogenic
GO!c.1108C>T(p.Gln370*)Exon 11no rs numberChr14:70489981Chr14:70023264c.1109C>TPathogenic

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.

Posted in Academia, Last Update, Medical Genetics, Molecular Biology, Senza categoria, Technohub and tagged , , , , , , , , .

Leave a Reply

Your email address will not be published. Required fields are marked *