ClinVar

NM_152296.5(ATP1A3):c.666T>A (p.Thr222=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41985364 (on Assembly GRCh38)
• Chr19: 42489516 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.666T>A (p.Thr222=)

HGVS:

• NC_000019.10:g.41985364A>T
• NG_008015.1:g.13867T>A
• NM_001256213.2:c.699T>A
• NM_001256214.1:c.705T>A
• NM_001256214.2:c.705T>A
• NM_152296.5:c.666T>AMANE SELECT
• NP_001243142.1:p.Thr233=
• NP_001243143.1:p.Thr235=
• NP_689509.1:p.Thr222=
• LRG_1186t1:c.666T>A
• LRG_1186:g.13867T>A
• LRG_1186p1:p.Thr222=
• NC_000019.9:g.42489516A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2217342

NCBI 1000 Genomes Browser:

rs2217342

Molecular consequence:

• NM_001256213.2:c.699T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256214.2:c.705T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152296.5:c.666T>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1