SMOC1 – NM_001034852.2:c.1108C>T

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

c.1108C>T (p.Gln370*) exon 11

rs number / neighbourhood
no rs number
GTATTTCAGC[C/T]AGCTGGACAG

Genomic Coordinates
GRCh37/hg19: chr14:70489981
GRCh38/hg38: chr14:70023264

Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 21750680, PMID: 8723070.


#1 PMID: 21750680, PMID: 8723070

Clinical Sign HPO ID
Bilateral anophthalmia HP:0000528
Upper limbs, bilateral 4/5 metacarpal fusion HP:0005867
Upper limbs, camptodactily HP:0100490
Lower limbs, postaxial oligodactyly HPO:0006210
Contractures of elbows HP:0002987
Coxa valga HP:0002673
Severe mental retardation HP:0010864
Epilepsy HP:0001250
Cryptorchidism HP:0000028

 

13-c-1108

black Affected individual – variant in a homozygous state
unknow-affected Affected individual – genotype unknown
carrier Not affected individual – variant in a heterozygous state (carrrier)
unknown-healthy Not affected individual – genotype unknown
healthy-novar Not affected individual – the variant is not present

Additional notes
The variant has been detected in Rainger and found in a homozygous state in the patient (reported as c.212C>T in the paper). The patient was firstly reviewed by Suyugul.

 

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