ClinVar

NM_152296.5(ATP1A3):c.2323C>A (p.Pro775Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41970483 (on Assembly GRCh38)
• Chr19: 42474635 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.2323C>A (p.Pro775Thr)

HGVS:

• NC_000019.10:g.41970483G>T
• NG_008015.1:g.28748C>A
• NM_001256213.2:c.2356C>A
• NM_001256214.2:c.2362C>A
• NM_152296.5:c.2323C>AMANE SELECT
• NP_001243142.1:p.Pro786Thr
• NP_001243143.1:p.Pro788Thr
• NP_689509.1:p.Pro775Thr
• LRG_1186t1:c.2323C>A
• LRG_1186:g.28748C>A
• LRG_1186p1:p.Pro775Thr
• NC_000019.9:g.42474635G>T
• NM_152296.3:c.2323C>A

This HGVS expression did not pass validation

Protein change:

P775T

Links:

dbSNP: rs1555859593

NCBI 1000 Genomes Browser:

rs1555859593

Molecular consequence:

• NM_001256213.2:c.2356C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256214.2:c.2362C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152296.5:c.2323C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1