ClinVar

NM_001348946.2(ABCB1):c.1379C>A (p.Thr460Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.12

Genomic location:

• Chr7: 87550026 (on Assembly GRCh38)
• Chr7: 87179342 (on Assembly GRCh37)

Preferred name:

NM_001348946.2(ABCB1):c.1379C>A (p.Thr460Asn)

HGVS:

• NC_000007.14:g.87550026G>T
• NG_011513.1:g.168223C>A
• NM_000927.5:c.1379C>A
• NM_001348944.2:c.1379C>A
• NM_001348945.2:c.1589C>A
• NM_001348946.2:c.1379C>AMANE SELECT
• NP_000918.2:p.Thr460Asn
• NP_001335873.1:p.Thr460Asn
• NP_001335874.1:p.Thr530Asn
• NP_001335875.1:p.Thr460Asn
• NC_000007.13:g.87179342G>T

This HGVS expression did not pass validation

Protein change:

T460N

Links:

dbSNP: rs1584871120

NCBI 1000 Genomes Browser:

rs1584871120

Molecular consequence:

• NM_000927.5:c.1379C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348944.2:c.1379C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348945.2:c.1589C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348946.2:c.1379C>A - missense variant - [Sequence Ontology: SO:0001583]