14q24.2 – NM_001034852.2
c.274C>T (p.Gln92*) exon 3
rs number / neighbourhood
1000GP: not reported
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21750680.
#1 PMID: 21750680.
|Clinical Sign||HPO ID|
|Upper limbs, contractures of fingers||HP:0100490|
|Lower Limb, postaxial oligodactyly||HP:0006210|
|Lower Limb, 2-3 toe cutaneous syndactyly||HP:0005709|
|Affected individual – variant in a homozygous state|
|Affected individual – genotype unknown|
|Not affected individual – variant in a heterozygous state (carrrier)|
|Not affected individual – genotype unknown|
|Not affected individual – the variant is not present|
The variant has been detected in Rainger and found in a homozygous state in the patient (reported as c.275C>T).