ClinVar

NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21829037 (on Assembly GRCh38)
• Chr12: 21981971 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His)

HGVS:

• NC_000012.12:g.21829037C>T
• NG_012819.1:g.112658G>A
• NM_001377273.1:c.3590G>A
• NM_001377274.1:c.2723G>A
• NM_005691.4:c.3590G>A
• NM_020297.4:c.3590G>AMANE SELECT
• NP_001364202.1:p.Arg1197His
• NP_001364203.1:p.Arg908His
• NP_005682.2:p.Arg1197His
• NP_005682.2:p.Arg1197His
• NP_064693.2:p.Arg1197His
• LRG_377t1:c.3590G>A
• LRG_377t2:c.3590G>A
• LRG_377:g.112658G>A
• NC_000012.11:g.21981971C>T
• NM_005691.2:c.3590G>A
• NM_005691.3:c.3590G>A
• NM_020297.2:c.3590G>A

This HGVS expression did not pass validation

Protein change:

R1197H

Links:

dbSNP: rs755156050

NCBI 1000 Genomes Browser:

rs755156050

Molecular consequence:

• NM_001377273.1:c.3590G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377274.1:c.2723G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005691.4:c.3590G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020297.4:c.3590G>A - missense variant - [Sequence Ontology: SO:0001583]