SMOC1 – NM_001034852.2:c.274C>T

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

c.274C>T (p.Gln92*) exon 3

rs number / neighbourhood
rs781216969
AGATGCTGGC[C/T]AGAGCAAGTG

Genomic Coordinates
GRCh37/hg19: chr14:70420145
GRCh38/hg38: chr14:69953428

Frequency
ExAC: T=8.24e-06
1000GP: not reported
ESP: not reported


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 21750680.


#1 PMID: 21750680.

Clinical Sign HPO ID
Bilateral anophthalmia HP:0000528
Upper limbs, contractures of fingers HP:0100490
Lower Limb, postaxial oligodactyly HP:0006210
Lower Limb, 2-3 toe cutaneous syndactyly HP:0005709
Bowed tibia HP:0002982
Talipes equinovarus HP:0001762
Horseshoe kidney HP:0000085

 

03-c274

 

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.275C>T).

 

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