ClinVar

NM_001371928.1(AHDC1):c.1703C>T (p.Ala568Val)

Gene:

AHDC1:AT-hook DNA binding motif containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

• Chr1: 27550413 (on Assembly GRCh38)
• Chr1: 27876924 (on Assembly GRCh37)

Preferred name:

NM_001371928.1(AHDC1):c.1703C>T (p.Ala568Val)

HGVS:

• NC_000001.11:g.27550413G>A
• NG_034158.1:g.58082C>T
• NM_001029882.3:c.1703C>T
• NM_001371928.1:c.1703C>TMANE SELECT
• NP_001025053.1:p.Ala568Val
• NP_001358857.1:p.Ala568Val
• NC_000001.10:g.27876924G>A
• NM_001029882.2:c.1703C>T

This HGVS expression did not pass validation

Protein change:

A568V

Molecular consequence:

• NM_001029882.3:c.1703C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371928.1:c.1703C>T - missense variant - [Sequence Ontology: SO:0001583]