ClinVar

NM_152296.5(ATP1A3):c.1688G>A (p.Cys563Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41978269 (on Assembly GRCh38)
• Chr19: 42482421 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.1688G>A (p.Cys563Tyr)

HGVS:

• NC_000019.10:g.41978269C>T
• NG_008015.1:g.20962G>A
• NM_001256213.2:c.1721G>A
• NM_001256214.2:c.1727G>A
• NM_152296.5:c.1688G>AMANE SELECT
• NP_001243142.1:p.Cys574Tyr
• NP_001243143.1:p.Cys576Tyr
• NP_689509.1:p.Cys563Tyr
• LRG_1186t1:c.1688G>A
• LRG_1186:g.20962G>A
• LRG_1186p1:p.Cys563Tyr
• NC_000019.9:g.42482421C>T
• NM_152296.4:c.1688G>A

This HGVS expression did not pass validation

Protein change:

C563Y

Links:

dbSNP: rs2145965055

NCBI 1000 Genomes Browser:

rs2145965055

Molecular consequence:

• NM_001256213.2:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256214.2:c.1727G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152296.5:c.1688G>A - missense variant - [Sequence Ontology: SO:0001583]