SMOC1 – NM_001034852.2:c.664+1G>A

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

c.664+1G>A intron 7

rs number / neighbourhood
no rs number
AGAAATTCAG[g/a]taaataacct

Genomic Coordinates
GRCh37/hg19: chr14:70461198
GRCh38/hg38: chr14:69994481

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

Reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30727)


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 21194678, PMID: 19208380.


#1 PMID: 21194678, PMID: 19208380.

Clinical Sign HPO ID
Bilateral anophthalmia HP:0000528
Upper limbs, clinodactyly HP:0040019
Upper limbs, camptodactyly HP:0100490
Lower limbs, bilateral syndactyly of 2nd to 5th toes HP:0010715
Failure to thrive HP:0001508
Mental retardation HP:0001249

 

 

07-c-664okada

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 Okada and found in a homozygous state in the patients. The patient was firstly reviewed by Hamanoue.

 

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Posted in Senza categoria.

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