ClinVar

NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met)

Gene:

ATP1A2:ATPase Na+/K+ transporting subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.2

Genomic location:

• Chr1: 160130141 (on Assembly GRCh38)
• Chr1: 160099931 (on Assembly GRCh37)

Preferred name:

NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met)

Other names:

p.V501M:GTG>ATG

HGVS:

• NC_000001.11:g.160130141G>A
• NG_008014.1:g.19384G>A
• NM_000702.4:c.1501G>AMANE SELECT
• NP_000693.1:p.Val501Met
• LRG_6:g.19384G>A
• NC_000001.10:g.160099931G>A
• NM_000702.3:c.1501G>A

This HGVS expression did not pass validation

Protein change:

V501M

Links:

dbSNP: rs150465651

NCBI 1000 Genomes Browser:

rs150465651

Molecular consequence:

• NM_000702.4:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]