ClinVar

NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21882798 (on Assembly GRCh38)
• Chr12: 22035732 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys)

HGVS:

• NC_000012.12:g.21882798G>A
• NG_012819.1:g.58897C>T
• NM_001377273.1:c.1987C>T
• NM_001377274.1:c.1123C>T
• NM_005691.4:c.1987C>T
• NM_020297.4:c.1987C>TMANE SELECT
• NP_001364202.1:p.Arg663Cys
• NP_001364203.1:p.Arg375Cys
• NP_005682.2:p.Arg663Cys
• NP_005682.2:p.Arg663Cys
• NP_064693.2:p.Arg663Cys
• NP_064693.2:p.Arg663Cys
• LRG_377t1:c.1987C>T
• LRG_377t2:c.1987C>T
• LRG_377:g.58897C>T
• NC_000012.11:g.22035732G>A
• NM_005691.2:c.1987C>T
• NM_005691.3:c.1987C>T
• NM_020297.2:c.1987C>T
• NM_020297.3:c.1987C>T
• c.1987C>T

This HGVS expression did not pass validation

Protein change:

R375C

Links:

dbSNP: rs200349671

NCBI 1000 Genomes Browser:

rs200349671

Molecular consequence:

• NM_001377273.1:c.1987C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377274.1:c.1123C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005691.4:c.1987C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020297.4:c.1987C>T - missense variant - [Sequence Ontology: SO:0001583]