ClinVar

NM_152296.5(ATP1A3):c.729G>A (p.Thr243=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41985182 (on Assembly GRCh38)
• Chr19: 42489334 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.729G>A (p.Thr243=)

HGVS:

• NC_000019.10:g.41985182C>T
• NG_008015.1:g.14049G>A
• NM_001256213.2:c.762G>A
• NM_001256214.2:c.768G>A
• NM_152296.5:c.729G>AMANE SELECT
• NP_001243142.1:p.Thr254=
• NP_001243143.1:p.Thr256=
• NP_689509.1:p.Thr243=
• LRG_1186t1:c.729G>A
• LRG_1186:g.14049G>A
• LRG_1186p1:p.Thr243=
• NC_000019.9:g.42489334C>T
• NC_000019.9:g.42489334C>T
• NM_152296.4:c.729G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs374578592

NCBI 1000 Genomes Browser:

rs374578592

Molecular consequence:

• NM_001256213.2:c.762G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256214.2:c.768G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152296.5:c.729G>A - synonymous variant - [Sequence Ontology: SO:0001819]