ClinVar

NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41970540 (on Assembly GRCh38)
• Chr19: 42474692 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)

HGVS:

• NC_000019.10:g.41970540G>A
• NG_008015.1:g.28691C>T
• NM_001256213.2:c.2299C>T
• NM_001256214.2:c.2305C>T
• NM_152296.5:c.2266C>TMANE SELECT
• NP_001243142.1:p.Arg767Cys
• NP_001243143.1:p.Arg769Cys
• NP_689509.1:p.Arg756Cys
• LRG_1186t1:c.2266C>T
• LRG_1186:g.28691C>T
• LRG_1186p1:p.Arg756Cys
• NC_000019.9:g.42474692G>A
• NM_001256214.2:c.2305C>T
• NM_152296.3:c.2266C>T
• NM_152296.4:c.2266C>T

This HGVS expression did not pass validation

Protein change:

R756C

Links:

dbSNP: rs1064797245

NCBI 1000 Genomes Browser:

rs1064797245

Molecular consequence:

• NM_001256213.2:c.2299C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256214.2:c.2305C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152296.5:c.2266C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1