ClinVar

NM_152296.5(ATP1A3):c.1806+3G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41978148 (on Assembly GRCh38)
• Chr19: 42482300 (on Assembly GRCh37)

Preferred name:

NM_152296.5(ATP1A3):c.1806+3G>A

HGVS:

• NC_000019.10:g.41978148C>T
• NG_008015.1:g.21083G>A
• NM_001256213.2:c.1839+3G>A
• NM_001256214.2:c.1845+3G>A
• NM_152296.5:c.1806+3G>AMANE SELECT
• LRG_1186t1:c.1806+3G>A
• LRG_1186:g.21083G>A
• NC_000019.9:g.42482300C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2145964767

NCBI 1000 Genomes Browser:

rs2145964767

Molecular consequence:

• NM_001256213.2:c.1839+3G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256214.2:c.1845+3G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_152296.5:c.1806+3G>A - intron variant - [Sequence Ontology: SO:0001627]