ClinVar

NM_001272071.2(AP1S2):c.179+12G>T

Gene:

AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 15852334 (on Assembly GRCh38)
• ChrX: 15870457 (on Assembly GRCh37)

Preferred name:

NM_001272071.2(AP1S2):c.179+12G>T

HGVS:

• NC_000023.11:g.15852334C>A
• NG_009274.2:g.7644G>T
• NM_001272071.2:c.179+12G>TMANE SELECT
• NM_001368994.1:c.179+12G>T
• NM_001369007.1:c.179+12G>T
• NM_001369008.1:c.179+12G>T
• NM_003916.5:c.179+12G>T
• NC_000023.10:g.15870457C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs889589992

NCBI 1000 Genomes Browser:

rs889589992

Molecular consequence:

• NM_001272071.2:c.179+12G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368994.1:c.179+12G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369007.1:c.179+12G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369008.1:c.179+12G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003916.5:c.179+12G>T - intron variant - [Sequence Ontology: SO:0001627]