ClinVar

NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala)

Genes:

ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]
KCNJ8-AS1:KCNJ8 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21807443 (on Assembly GRCh38)
• Chr12: 21960377 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala)

HGVS:

• NC_000012.12:g.21807443A>G
• NG_012819.1:g.134252T>C
• NM_001377273.1:c.4352T>C
• NM_001377274.1:c.3485T>C
• NM_005691.4:c.4352T>C
• NM_020297.4:c.4352T>CMANE SELECT
• NP_001364202.1:p.Val1451Ala
• NP_001364203.1:p.Val1162Ala
• NP_005682.2:p.Val1451Ala
• NP_064693.2:p.Val1451Ala
• NP_064693.2:p.Val1451Ala
• LRG_377t2:c.4352T>C
• LRG_377:g.134252T>C
• NC_000012.11:g.21960377A>G
• NM_005691.2:c.4352T>C
• NM_020297.3:c.4352T>C
• c.4352T>C

This HGVS expression did not pass validation

Protein change:

V1162A

Links:

dbSNP: rs397517190

NCBI 1000 Genomes Browser:

rs397517190

Molecular consequence:

• NM_001377273.1:c.4352T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377274.1:c.3485T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005691.4:c.4352T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_020297.4:c.4352T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1