ClinVar

NM_000702.4(ATP1A2):c.1828-248CA[12]

Gene:

ATP1A2:ATPase Na+/K+ transporting subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1q23.2

Genomic location:

• Chr1: 160134235 - 160134236 (on Assembly GRCh38)
• Chr1: 160104025 - 160104026 (on Assembly GRCh37)

Preferred name:

NM_000702.4(ATP1A2):c.1828-248CA[12]

HGVS:

• NC_000001.11:g.160134236CA[12]
• NG_008014.1:g.23479CA[12]
• NM_000702.4:c.1828-248CA[12]MANE SELECT
• LRG_6:g.23479CA[12]
• NC_000001.10:g.160104026CA[12]

This HGVS expression did not pass validation

Links:

dbSNP: rs146388527

NCBI 1000 Genomes Browser:

rs146388527

Molecular consequence:

• NM_000702.4:c.1828-248CA[12] - intron variant - [Sequence Ontology: SO:0001627]