ClinVar

NM_020297.4(ABCC9):c.3284G>A (p.Arg1095His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21844514 (on Assembly GRCh38)
• Chr12: 21997448 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.3284G>A (p.Arg1095His)

HGVS:

• NC_000012.12:g.21844514C>T
• NG_012819.1:g.97181G>A
• NM_001377273.1:c.3284G>A
• NM_001377274.1:c.2417G>A
• NM_005691.4:c.3284G>A
• NM_020297.4:c.3284G>AMANE SELECT
• NP_001364202.1:p.Arg1095His
• NP_001364203.1:p.Arg806His
• NP_005682.2:p.Arg1095His
• NP_064693.2:p.Arg1095His
• NP_064693.2:p.Arg1095His
• LRG_377:g.97181G>A
• NC_000012.11:g.21997448C>T
• NM_020297.3:c.3284G>A

This HGVS expression did not pass validation

Protein change:

R1095H

Links:

dbSNP: rs869025347

NCBI 1000 Genomes Browser:

rs869025347

Molecular consequence:

• NM_001377273.1:c.3284G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377274.1:c.2417G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005691.4:c.3284G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020297.4:c.3284G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1