ClinVar

NM_020297.4(ABCC9):c.1677G>A (p.Ala559=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21894157 (on Assembly GRCh38)
• Chr12: 22047091 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.1677G>A (p.Ala559=)

Other names:

p.A559A:GCG>GCA

HGVS:

• NC_000012.12:g.21894157C>T
• NG_012819.1:g.47538G>A
• NM_001377273.1:c.1677G>A
• NM_001377274.1:c.813G>A
• NM_005691.4:c.1677G>A
• NM_020297.3:c.1677G>A
• NM_020297.4:c.1677G>AMANE SELECT
• NP_001364202.1:p.Ala559=
• NP_001364203.1:p.Ala271=
• NP_005682.2:p.Ala559=
• NP_005682.2:p.Ala559=
• NP_064693.2:p.Ala559=
• LRG_377t1:c.1677G>A
• LRG_377t2:c.1677G>A
• LRG_377:g.47538G>A
• NC_000012.11:g.22047091C>T
• NM_005691.2:c.1677G>A
• NM_005691.3:c.1677G>A
• NM_020297.2:c.1677G>A
• c.1677G>A
• p.Ala559Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs76458291

NCBI 1000 Genomes Browser:

rs76458291

Molecular consequence:

• NM_001377273.1:c.1677G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377274.1:c.813G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005691.4:c.1677G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020297.4:c.1677G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2