ClinVar

NM_152296.5(ATP1A3):c.659A>C (p.Asp220Ala)

Gene:

ATP1A3:ATPase Na+/K+ transporting subunit alpha 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41985371 (on Assembly GRCh38)
• Chr19: 42489523 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.659A>C (p.Asp220Ala)

HGVS:

• NC_000019.10:g.41985371T>G
• NG_008015.1:g.13860A>C
• NM_001256213.2:c.692A>C
• NM_001256214.2:c.698A>C
• NM_152296.5:c.659A>CMANE SELECT
• NP_001243142.1:p.Asp231Ala
• NP_001243143.1:p.Asp233Ala
• NP_689509.1:p.Asp220Ala
• LRG_1186t1:c.659A>C
• LRG_1186:g.13860A>C
• LRG_1186p1:p.Asp220Ala
• NC_000019.9:g.42489523T>G
• NM_152296.4:c.659A>C

This HGVS expression did not pass validation

Protein change:

D220A

Links:

dbSNP: rs2145978691

NCBI 1000 Genomes Browser:

rs2145978691

Molecular consequence:

• NM_001256213.2:c.692A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256214.2:c.698A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_152296.5:c.659A>C - missense variant - [Sequence Ontology: SO:0001583]