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

Tags

Leave a Reply

Your email address will not be published.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

Feel free to call us to book your appointment

CONTACT FORM

CONTACT FORM

Enter Email
Confirm Email
Invio

Subscribe to our newsletter to receive news on the world of genetics.

We regularly send specific information for Patients and Professionals with updates and news.
No Spam, that's information.

Newsletter Signup

Newsletter Signup

First
Last