ClinVar

NM_152296.5(ATP1A3):c.315C>T (p.Tyr105=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41987978 (on Assembly GRCh38)
• Chr19: 42492130 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.315C>T (p.Tyr105=)

HGVS:

• NC_000019.10:g.41987978G>A
• NG_008015.1:g.11253C>T
• NM_001256213.2:c.348C>T
• NM_001256214.2:c.354C>T
• NM_152296.5:c.315C>TMANE SELECT
• NP_001243142.1:p.Tyr116=
• NP_001243143.1:p.Tyr118=
• NP_689509.1:p.Tyr105=
• LRG_1186t1:c.315C>T
• LRG_1186:g.11253C>T
• LRG_1186p1:p.Tyr105=
• NC_000019.9:g.42492130G>A
• NM_152296.4:c.315C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs782717865

NCBI 1000 Genomes Browser:

rs782717865

Molecular consequence:

• NM_001256213.2:c.348C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256214.2:c.354C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152296.5:c.315C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2