SMOC1 – NM_001034852.2:c.223C>T

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

c.223C>T (p.Arg75*) exon 2

rs number / neighbourhood
rs370866589
AGCCAAGTGC[C/T]GAGACCCGAC

Genomic Coordinates
GRCh37/hg19:  chr14:70418978
GRCh38/hg38:  chr14:69952261

Frequency
ExAC: T=3.295e-05
1000GP: not reported
ESP: T=0.000077


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 21750680, PMID: 6544388.


#1 PMID: 21750680, PMID: 6544388.

Clinical Sign HPO ID
Bilateral anophthalmia HP:0000528
Upper Limb, bilateral 4-5 metacarpal fusion HP:0005867
Lower Limb, postaxial oligodactyly HP:0006210
Severe mental retardation HP:0010864

 

02-c223

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.224C>T). The patient was firstly reviewed by Pallotta et Dallapiccola.

 

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