ClinVar

NM_005751.5(AKAP9):c.48+5G>A

Genes:

AKAP9:A-kinase anchoring protein 9 [Gene - OMIM - HGNC]
LOC129998788:ATAC-STARR-seq lymphoblastoid active region 26256 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

• Chr7: 91941152 (on Assembly GRCh38)
• Chr7: 91570466 (on Assembly GRCh37)

Preferred name:

NM_005751.5(AKAP9):c.48+5G>A

HGVS:

• NC_000007.14:g.91941152G>A
• NG_011623.1:g.5278G>A
• NM_005751.5:c.48+5G>AMANE SELECT
• NM_147185.3:c.48+5G>A
• LRG_331t1:c.48+5G>A
• LRG_331:g.5278G>A
• NC_000007.13:g.91570466G>A
• NM_005751.4:c.48+5G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs377559019

NCBI 1000 Genomes Browser:

rs377559019

Molecular consequence:

• NM_005751.5:c.48+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_147185.3:c.48+5G>A - intron variant - [Sequence Ontology: SO:0001627]