14q24.2 – NM_001034852.2
c.395dupA (p.Tyr132fs*1) exon 4
rs number / neighbourhood
no rs number
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|
|Upper limbs, bilateral 4/5 metacarpal fusion||HP:0005867|
|Lower Limb, postaxial oligodactyly||HP:0006210|
|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. The patient was firstly reviewed by Garavelli.