ClinVar

NM_001348946.2(ABCB1):c.1305A>G (p.Thr435=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.12

Genomic location:

• Chr7: 87550216 (on Assembly GRCh38)
• Chr7: 87179532 (on Assembly GRCh37)

Preferred name:

NM_001348946.2(ABCB1):c.1305A>G (p.Thr435=)

HGVS:

• NC_000007.14:g.87550216T>C
• NG_011513.1:g.168033A>G
• NM_000927.5:c.1305A>G
• NM_001348944.2:c.1305A>G
• NM_001348945.2:c.1515A>G
• NM_001348946.2:c.1305A>GMANE SELECT
• NP_000918.2:p.Thr435=
• NP_001335873.1:p.Thr435=
• NP_001335874.1:p.Thr505=
• NP_001335875.1:p.Thr435=
• NC_000007.13:g.87179532T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1584871479

NCBI 1000 Genomes Browser:

rs1584871479

Molecular consequence:

• NM_000927.5:c.1305A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348944.2:c.1305A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348945.2:c.1515A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348946.2:c.1305A>G - synonymous variant - [Sequence Ontology: SO:0001819]