AMDHD1

amidohydrolase domain containing 1

Summary

Predicted to enable imidazolonepropionase activity. Predicted to be involved in L-histidine catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants19 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75702154112:96,337,279G/Tuncertain significance
rs90342025512:96,337,306G/Tuncertain significance
rs142134870912:96,350,479A/Guncertain significance
rs14562638412:96,350,493C/Guncertain significance
rs76716470312:96,350,568C/Auncertain significance
rs15104603412:96,350,571C/Guncertain significance
rs19969340512:96,350,586A/Guncertain significance
rs75095464512:96,350,660G/Auncertain significance
rs74694906712:96,354,232T/Guncertain significance
rs77276081912:96,354,256A/Guncertain significance
rs18449953512:96,354,264G/Auncertain significance
rs14322399312:96,354,279G/Auncertain significance
rs75402526312:96,354,295G/Auncertain significance
rs14338721012:96,355,210T/Cintron variant
rs1074574212:96,358,529C/Tintron variant
rs14339954712:96,359,504G/Auncertain significance
rs249961984912:96,359,541C/Tuncertain significance
rs249962031312:96,360,211C/Tuncertain significance
rs134645729112:96,360,220A/Guncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.