ClinVar

NM_020297.4(ABCC9):c.3315+17C>T

Gene:

ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21844466 (on Assembly GRCh38)
• Chr12: 21997400 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.3315+17C>T

HGVS:

• NC_000012.12:g.21844466G>A
• NG_012819.1:g.97229C>T
• NM_001377273.1:c.3315+17C>T
• NM_001377274.1:c.2448+17C>T
• NM_005691.4:c.3315+17C>T
• NM_020297.4:c.3315+17C>TMANE SELECT
• LRG_377t1:c.3315+17C>T
• LRG_377:g.97229C>T
• NC_000012.11:g.21997400G>A
• NM_005691.3:c.3315+17C>T
• NM_020297.2:c.3315+17C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200692327

NCBI 1000 Genomes Browser:

rs200692327

Molecular consequence:

• NM_001377273.1:c.3315+17C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377274.1:c.2448+17C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005691.4:c.3315+17C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_020297.4:c.3315+17C>T - intron variant - [Sequence Ontology: SO:0001627]