ClinVar

NM_001348946.2(ABCB1):c.1295G>T (p.Gly432Val)

Gene:

ABCB1:ATP binding cassette subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.12

Genomic location:

• Chr7: 87550226 (on Assembly GRCh38)
• Chr7: 87179542 (on Assembly GRCh37)

Preferred name:

NM_001348946.2(ABCB1):c.1295G>T (p.Gly432Val)

HGVS:

• NC_000007.14:g.87550226C>A
• NG_011513.1:g.168023G>T
• NM_000927.5:c.1295G>T
• NM_001348944.2:c.1295G>T
• NM_001348945.2:c.1505G>T
• NM_001348946.2:c.1295G>TMANE SELECT
• NP_000918.2:p.Gly432Val
• NP_001335873.1:p.Gly432Val
• NP_001335874.1:p.Gly502Val
• NP_001335875.1:p.Gly432Val
• NC_000007.13:g.87179542C>A

This HGVS expression did not pass validation

Protein change:

G432V

Links:

dbSNP: rs1584871513

NCBI 1000 Genomes Browser:

rs1584871513

Molecular consequence:

• NM_000927.5:c.1295G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348944.2:c.1295G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348945.2:c.1505G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348946.2:c.1295G>T - missense variant - [Sequence Ontology: SO:0001583]