SMOC1 – NM_001034852.2:c.857G>A

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

c.857G>A (p.Arg286His) exon 8

rs number / neighbourhood
no rs number
ACCTCCACAC[G/A]gtaagccccc

Genomic Coordinates
GRCh37/hg19: chr14:70477663
GRCh38/hg38: chr14:70010946

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


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 23646827.


#1 PMID: 23646827.

Clinical Sign HPO ID
Bilateral anophthalmia HP:0000528
Syndactyly HP:0001159

 

11-c857a

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

#2  PMID: 23646827.

Clinical Sign HPO ID
Unilateral anophthalmia HP:0000528
Syndactyly HP:0001159

11-c857b

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 Aldahmesh and found in a homozygous state in both patients. In an other branch of the family the authors identified two variants in the ALDH13 gene in patients affected by microphthalmia.

 

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Your email address will not be published.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