ClinVar

NM_000392.5(ABCC2):c.2715A>T (p.Arg905Ser)

Genes:

ABCC2:ATP binding cassette subfamily C member 2 [Gene - OMIM - HGNC]
LOC126861012:BRD4-independent group 4 enhancer GRCh37_chr10:101589748-101590947 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.2

Genomic location:

• Chr10: 99830401 (on Assembly GRCh38)
• Chr10: 101590158 (on Assembly GRCh37)

Preferred name:

NM_000392.5(ABCC2):c.2715A>T (p.Arg905Ser)

HGVS:

• NC_000010.11:g.99830401A>T
• NG_011798.2:g.52804A>T
• NM_000392.5:c.2715A>TMANE SELECT
• NP_000383.2:p.Arg905Ser
• LRG_1208t1:c.2715A>T
• LRG_1208:g.52804A>T
• LRG_1208p1:p.Arg905Ser
• NC_000010.10:g.101590158A>T
• NG_011798.1:g.52696A>T

This HGVS expression did not pass validation

Protein change:

R905S

Links:

dbSNP: rs766697550

NCBI 1000 Genomes Browser:

rs766697550

Molecular consequence:

• NM_000392.5:c.2715A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1