SMOC1 – NM_001034852.2:c.211C>T

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

c.211C>T (p.Arg71*) exon 2

rs number / neighbourhood
rs532566349
TGAGTACCAG[C/T]GAGCCAAGTG

Genomic Coordinates
GRCh37/hg19: chr14:70418966
GRCh38/hg38: chr14:69952249

Frequency
ExAC: T=8.238e-06
1000GP: T=0.0002
ESP: not reported


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 21750680, PMID: 18541965.


#1 PMID: 21750680, PMID: 18541965.

Clinical Sign HPO ID
Unilateral anophthalmia HP:0000528
Lower limbs, postaxial oligodactyly HP:0006210
Pierre-Robin sequence HP:0000201

 

01-c211

 

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 (reported as c.212C>T in the paper). The patient was firstly reviewed by Khan et Zafar. As discrepancies have been noticed between the familial pedigree in Rainger et the family description in Khan et Zafar, we opted for the most reliable familial pedigree.

 

Go back to the SMOC1 homepage

Posted in Senza categoria.

Leave a Reply

Your email address will not be published.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