SMOC1 – NM_001034852.2:c.395dupA

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

c.395dupA (p.Tyr132fs*1) exon 4

rs number / neighbourhood
no rs number
TGCCATACTTA[-/A]CACTGGGTAC

Genomic Coordinates
GRCh37/hg19: chr14:70442448
GRCh38/hg38: chr14:69975731

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


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 21750680, PMID: 17375532.


#1 PMID: 21750680, PMID: 17375532.

Clinical Sign HPO ID
Bilateral anophthalmia HP:0000528
Upper limbs, bilateral 4/5 metacarpal fusion HP:0005867
Lower Limb, postaxial oligodactyly HP:0006210
Bowed tibia HP:0002982
Horseshoe kidney HP:0000085

 

06-395dup

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. The patient was firstly reviewed by Garavelli.

 

Go back to the SMOC1 homepage

Posted in Senza categoria.

Leave a Reply

Your email address will not be published. Required fields are marked *