SMOC1 – NM_001034852.2:c.378+1G>A

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

c.378+1G>A intron 3

rs number / neighbourhood
rs751356341
CTTTACCCAG[g/a]tgaggcctcg

Genomic Coordinates
GRCh37/hg19: chr14:70420250
GRCh38/hg38: chr14:69953533

Frequency
ExAC: A=8.27e-06 (filtered out)
1000GP: not reported
ESP: not reported

Reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30728)


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 21194678, PMID: 10607960.


#1 PMID: 21194678, PMID: 10607960.

Clinical Sign HPO ID
Bilateral anophthalmia HP:0000528
Small face HP:0000274
Short palpebral fissures HP:0012745
Close eyelids HP:0000492
Upper limbs, syndactyly between the 4th and 5th fingers HP:0010705
Lower limbs, absence of the 5th toe HP:0010343
Proximal 4th and 5th metacarpal synostosis HP:0009707; HP:0009708
Hypoplasia of the 5th finger HP:0006262
Coalition of capitate and hamate HP:0001241
Lower limbs, absence of 5th metatarsals and toes HP:0008079

 

 

05-378okada

 

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 patient. The patient was firstly reviewed by Cogulu.

 

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