ClinVar

NM_152296.5(ATP1A3):c.1756C>T (p.Arg586Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41978201 (on Assembly GRCh38)
• Chr19: 42482353 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.1756C>T (p.Arg586Trp)

HGVS:

• NC_000019.10:g.41978201G>A
• NG_008015.1:g.21030C>T
• NM_001256213.2:c.1789C>T
• NM_001256214.2:c.1795C>T
• NM_152296.5:c.1756C>TMANE SELECT
• NP_001243142.1:p.Arg597Trp
• NP_001243143.1:p.Arg599Trp
• NP_689509.1:p.Arg586Trp
• LRG_1186t1:c.1756C>T
• LRG_1186:g.21030C>T
• LRG_1186p1:p.Arg586Trp
• NC_000019.9:g.42482353G>A

This HGVS expression did not pass validation

Protein change:

R586W

Links:

dbSNP: rs1555862098

NCBI 1000 Genomes Browser:

rs1555862098

Molecular consequence:

• NM_001256213.2:c.1789C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256214.2:c.1795C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152296.5:c.1756C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1