ClinVar

NM_152296.5(ATP1A3):c.2989C>G (p.Leu997Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41967273 (on Assembly GRCh38)
• Chr19: 42471425 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.2989C>G (p.Leu997Val)

HGVS:

• NC_000019.10:g.41967273G>C
• NG_008015.1:g.31958C>G
• NM_001256213.2:c.3022C>G
• NM_001256214.2:c.3028C>G
• NM_152296.5:c.2989C>GMANE SELECT
• NP_001243142.1:p.Leu1008Val
• NP_001243143.1:p.Leu1010Val
• NP_689509.1:p.Leu997Val
• LRG_1186t1:c.2989C>G
• LRG_1186:g.31958C>G
• LRG_1186p1:p.Leu997Val
• NC_000019.9:g.42471425G>C
• NM_152296.4:c.2989C>G

This HGVS expression did not pass validation

Protein change:

L1008V

Molecular consequence:

• NM_001256213.2:c.3022C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256214.2:c.3028C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_152296.5:c.2989C>G - missense variant - [Sequence Ontology: SO:0001583]