ClinVar

NM_001348946.2(ABCB1):c.61A>G (p.Asn21Asp)

Genes:

ABCB1:ATP binding cassette subfamily B member 1 [Gene - OMIM - HGNC]
LOC126860097:BRD4-independent group 4 enhancer GRCh37_chr7:87228303-87229502 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.12

Genomic location:

• Chr7: 87600124 (on Assembly GRCh38)
• Chr7: 87229440 (on Assembly GRCh37)

Preferred name:

NM_001348946.2(ABCB1):c.61A>G (p.Asn21Asp)

HGVS:

• NC_000007.14:g.87600124T>C
• NG_011513.1:g.118125A>G
• NM_000927.4:c.61A>G
• NM_000927.5:c.61A>G
• NM_001348944.2:c.61A>G
• NM_001348945.2:c.271A>G
• NM_001348946.2:c.61A>GMANE SELECT
• NP_000918.2:p.Asn21Asp
• NP_001335873.1:p.Asn21Asp
• NP_001335874.1:p.Asn91Asp
• NP_001335875.1:p.Asn21Asp
• NC_000007.13:g.87229440T>C

This HGVS expression did not pass validation

Protein change:

N21D

Links:

dbSNP: rs9282564

NCBI 1000 Genomes Browser:

rs9282564

Molecular consequence:

• NM_000927.5:c.61A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348944.2:c.61A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348945.2:c.271A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348946.2:c.61A>G - missense variant - [Sequence Ontology: SO:0001583]