ClinVar

NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41988005 (on Assembly GRCh38)
• Chr19: 42492157 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)

HGVS:

• NC_000019.10:g.41988005G>A
• NG_008015.1:g.11226C>T
• NM_001256213.2:c.321C>T
• NM_001256214.2:c.327C>T
• NM_152296.5:c.288C>TMANE SELECT
• NP_001243142.1:p.Ile107=
• NP_001243143.1:p.Ile109=
• NP_689509.1:p.Ile96=
• LRG_1186t1:c.288C>T
• LRG_1186:g.11226C>T
• LRG_1186p1:p.Ile96=
• NC_000019.9:g.42492157G>A
• NM_001256214.1:c.327C>T
• NM_152296.4:c.288C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs142806181

NCBI 1000 Genomes Browser:

rs142806181

Molecular consequence:

• NM_001256213.2:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256214.2:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152296.5:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]