ClinVar

NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21882806 (on Assembly GRCh38)
• Chr12: 22035740 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln)

HGVS:

• NC_000012.12:g.21882806C>T
• NG_012819.1:g.58889G>A
• NM_001377273.1:c.1979G>A
• NM_001377274.1:c.1115G>A
• NM_005691.4:c.1979G>A
• NM_020297.2:c.1979G>A
• NM_020297.4:c.1979G>AMANE SELECT
• NP_001364202.1:p.Arg660Gln
• NP_001364203.1:p.Arg372Gln
• NP_005682.2:p.Arg660Gln
• NP_005682.2:p.Arg660Gln
• NP_064693.2:p.Arg660Gln
• LRG_377t1:c.1979G>A
• LRG_377t2:c.1979G>A
• LRG_377:g.58889G>A
• NC_000012.11:g.22035740C>T
• NM_005691.2:c.1979G>A
• NM_005691.3:c.1979G>A

This HGVS expression did not pass validation

Protein change:

R372Q

Links:

dbSNP: rs150255709

NCBI 1000 Genomes Browser:

rs150255709

Molecular consequence:

• NM_001377273.1:c.1979G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377274.1:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005691.4:c.1979G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020297.4:c.1979G>A - missense variant - [Sequence Ontology: SO:0001583]