ClinVar

NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41986202 (on Assembly GRCh38)
• Chr19: 42490354 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)

HGVS:

• NC_000019.10:g.41986202C>T
• NG_008015.1:g.13029G>A
• NM_001256213.2:c.418G>A
• NM_001256214.2:c.424G>A
• NM_152296.5:c.385G>AMANE SELECT
• NP_001243142.1:p.Val140Met
• NP_001243143.1:p.Val142Met
• NP_689509.1:p.Val129Met
• LRG_1186t1:c.385G>A
• LRG_1186:g.13029G>A
• LRG_1186p1:p.Val129Met
• NC_000019.9:g.42490354C>T
• NM_001256214.1:c.424G>A
• NM_152296.4:c.385G>A

This HGVS expression did not pass validation

Protein change:

V129M

Links:

dbSNP: rs1555865401

NCBI 1000 Genomes Browser:

rs1555865401

Molecular consequence:

• NM_001256213.2:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256214.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152296.5:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]