ClinVar

NM_020297.4(ABCC9):c.4512+814C>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: 21805184 (on Assembly GRCh38)
• Chr12: 21958118 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.4512+814C>T

HGVS:

• NC_000012.12:g.21805184G>A
• NG_012819.1:g.136511C>T
• NM_001377273.1:c.4512+814C>T
• NM_001377274.1:c.3645+814C>T
• NM_005691.4:c.4640C>T
• NM_020297.4:c.4512+814C>TMANE SELECT
• NP_005682.2:p.Thr1547Ile
• LRG_377t1:c.4512+814C>T
• LRG_377t2:c.4640C>T
• LRG_377:g.136511C>T
• NC_000012.11:g.21958118G>A
• NM_005691.2:c.4640C>T
• NM_020297.2:c.4512+814C>T
• O60706:p.Thr1547Ile

This HGVS expression did not pass validation

Protein change:

T1547I; THR1547ILE

Links:

UniProtKB: O60706#VAR_066210; OMIM: 601439.0003; dbSNP: rs387906805

NCBI 1000 Genomes Browser:

rs387906805

Molecular consequence:

• NM_001377273.1:c.4512+814C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377274.1:c.3645+814C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_020297.4:c.4512+814C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005691.4:c.4640C>T - missense variant - [Sequence Ontology: SO:0001583]