ClinVar

NM_152296.5(ATP1A3):c.725G>T (p.Gly242Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41985186 (on Assembly GRCh38)
• Chr19: 42489338 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.725G>T (p.Gly242Val)

HGVS:

• NC_000019.10:g.41985186C>A
• NG_008015.1:g.14045G>T
• NM_001256213.2:c.758G>T
• NM_001256214.2:c.764G>T
• NM_152296.5:c.725G>TMANE SELECT
• NP_001243142.1:p.Gly253Val
• NP_001243143.1:p.Gly255Val
• NP_689509.1:p.Gly242Val
• LRG_1186t1:c.725G>T
• LRG_1186:g.14045G>T
• LRG_1186p1:p.Gly242Val
• NC_000019.9:g.42489338C>A
• NM_152296.4:c.725G>T

This HGVS expression did not pass validation

Protein change:

G242V

Molecular consequence:

• NM_001256213.2:c.758G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256214.2:c.764G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152296.5:c.725G>T - missense variant - [Sequence Ontology: SO:0001583]