ClinVar

NM_001348946.2(ABCB1):c.3373T>A (p.Cys1125Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.12

Genomic location:

• Chr7: 87509391 (on Assembly GRCh38)
• Chr7: 87138707 (on Assembly GRCh37)

Preferred name:

NM_001348946.2(ABCB1):c.3373T>A (p.Cys1125Ser)

HGVS:

• NC_000007.14:g.87509391A>T
• NG_011513.1:g.208858T>A
• NM_000927.5:c.3373T>A
• NM_001348944.2:c.3373T>A
• NM_001348945.2:c.3583T>A
• NM_001348946.2:c.3373T>AMANE SELECT
• NP_000918.2:p.Cys1125Ser
• NP_001335873.1:p.Cys1125Ser
• NP_001335874.1:p.Cys1195Ser
• NP_001335875.1:p.Cys1125Ser
• NC_000007.13:g.87138707A>T

This HGVS expression did not pass validation

Protein change:

C1125S

Links:

dbSNP: rs758212180

NCBI 1000 Genomes Browser:

rs758212180

Molecular consequence:

• NM_000927.5:c.3373T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348944.2:c.3373T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348945.2:c.3583T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348946.2:c.3373T>A - missense variant - [Sequence Ontology: SO:0001583]