ClinVar

NM_152296.5(ATP1A3):c.1698G>A (p.Val566=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41978259 (on Assembly GRCh38)
• Chr19: 42482411 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.1698G>A (p.Val566=)

HGVS:

• NC_000019.10:g.41978259C>T
• NG_008015.1:g.20972G>A
• NM_001256213.2:c.1731G>A
• NM_001256214.2:c.1737G>A
• NM_152296.5:c.1698G>AMANE SELECT
• NP_001243142.1:p.Val577=
• NP_001243143.1:p.Val579=
• NP_689509.1:p.Val566=
• LRG_1186t1:c.1698G>A
• LRG_1186:g.20972G>A
• LRG_1186p1:p.Val566=
• NC_000019.9:g.42482411C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2075193265

NCBI 1000 Genomes Browser:

rs2075193265

Molecular consequence:

• NM_001256213.2:c.1731G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256214.2:c.1737G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152296.5:c.1698G>A - synonymous variant - [Sequence Ontology: SO:0001819]