ClinVar

NM_001348946.2(ABCB1):c.1225-42C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.12

Genomic location:

• Chr7: 87550338 (on Assembly GRCh38)
• Chr7: 87179654 (on Assembly GRCh37)

Preferred name:

NM_001348946.2(ABCB1):c.1225-42C>T

HGVS:

• NC_000007.14:g.87550338G>A
• NG_011513.1:g.167911C>T
• NM_000927.5:c.1225-42C>T
• NM_001348944.2:c.1225-42C>T
• NM_001348945.2:c.1435-42C>T
• NM_001348946.2:c.1225-42C>TMANE SELECT
• NC_000007.13:g.87179654G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1584871706

NCBI 1000 Genomes Browser:

rs1584871706

Molecular consequence:

• NM_000927.5:c.1225-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001348944.2:c.1225-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001348945.2:c.1435-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001348946.2:c.1225-42C>T - intron variant - [Sequence Ontology: SO:0001627]