ClinVar

NM_020297.4(ABCC9):c.3270A>T (p.Gly1090=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21844528 (on Assembly GRCh38)
• Chr12: 21997462 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.3270A>T (p.Gly1090=)

HGVS:

• NC_000012.12:g.21844528T>A
• NG_012819.1:g.97167A>T
• NM_001377273.1:c.3270A>T
• NM_001377274.1:c.2403A>T
• NM_005691.4:c.3270A>T
• NM_020297.4:c.3270A>TMANE SELECT
• NP_001364202.1:p.Gly1090=
• NP_001364203.1:p.Gly801=
• NP_005682.2:p.Gly1090=
• NP_005682.2:p.Gly1090=
• NP_064693.2:p.Gly1090=
• NP_064693.2:p.Gly1090=
• LRG_377t1:c.3270A>T
• LRG_377t2:c.3270A>T
• LRG_377:g.97167A>T
• LRG_377p1:p.Gly1090=
• LRG_377p2:p.Gly1090=
• NC_000012.11:g.21997462T>A
• NM_005691.2:c.3270A>T
• NM_020297.2:c.3270A>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001377273.1:c.3270A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377274.1:c.2403A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005691.4:c.3270A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020297.4:c.3270A>T - synonymous variant - [Sequence Ontology: SO:0001819]