ClinVar

NM_020297.4(ABCC9):c.1547A>C (p.Lys516Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21906197 (on Assembly GRCh38)
• Chr12: 22059131 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.1547A>C (p.Lys516Thr)

HGVS:

• NC_000012.12:g.21906197T>G
• NG_012819.1:g.35498A>C
• NM_001377273.1:c.1547A>C
• NM_001377274.1:c.683A>C
• NM_005691.4:c.1547A>C
• NM_020297.4:c.1547A>CMANE SELECT
• NP_001364202.1:p.Lys516Thr
• NP_001364203.1:p.Lys228Thr
• NP_005682.2:p.Lys516Thr
• NP_064693.2:p.Lys516Thr
• LRG_377t1:c.1547A>C
• LRG_377:g.35498A>C
• NC_000012.11:g.22059131T>G
• NM_020297.2:c.1547A>C

This HGVS expression did not pass validation

Protein change:

K228T

Links:

dbSNP: rs1427379884

NCBI 1000 Genomes Browser:

rs1427379884

Molecular consequence:

• NM_001377273.1:c.1547A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377274.1:c.683A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005691.4:c.1547A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_020297.4:c.1547A>C - missense variant - [Sequence Ontology: SO:0001583]