ClinVar

NM_152296.5(ATP1A3):c.1899C>A (p.Asp633Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41977980 (on Assembly GRCh38)
• Chr19: 42482132 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.1899C>A (p.Asp633Glu)

HGVS:

• NC_000019.10:g.41977980G>T
• NG_008015.1:g.21251C>A
• NM_001256213.2:c.1932C>A
• NM_001256214.2:c.1938C>A
• NM_152296.5:c.1899C>AMANE SELECT
• NP_001243142.1:p.Asp644Glu
• NP_001243143.1:p.Asp646Glu
• NP_689509.1:p.Asp633Glu
• LRG_1186t1:c.1899C>A
• LRG_1186:g.21251C>A
• LRG_1186p1:p.Asp633Glu
• NC_000019.9:g.42482132G>T
• NM_152296.4:c.1899C>A

This HGVS expression did not pass validation

Protein change:

D633E

Links:

dbSNP: rs1131691915

NCBI 1000 Genomes Browser:

rs1131691915

Molecular consequence:

• NM_001256213.2:c.1932C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256214.2:c.1938C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152296.5:c.1899C>A - missense variant - [Sequence Ontology: SO:0001583]