ClinVar

NM_000392.5(ABCC2):c.4046G>C (p.Arg1349Thr)

Gene:

ABCC2:ATP binding cassette subfamily C member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.2

Genomic location:

• Chr10: 99845682 (on Assembly GRCh38)
• Chr10: 101605439 (on Assembly GRCh37)

Preferred name:

NM_000392.5(ABCC2):c.4046G>C (p.Arg1349Thr)

HGVS:

• NC_000010.11:g.99845682G>C
• NG_011798.2:g.68085G>C
• NM_000392.5:c.4046G>CMANE SELECT
• NP_000383.2:p.Arg1349Thr
• LRG_1208t1:c.4046G>C
• LRG_1208:g.68085G>C
• LRG_1208p1:p.Arg1349Thr
• NC_000010.10:g.101605439G>C
• NG_011798.1:g.67977G>C

This HGVS expression did not pass validation

Protein change:

R1349T

Links:

dbSNP: rs756482190

NCBI 1000 Genomes Browser:

rs756482190

Molecular consequence:

• NM_000392.5:c.4046G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1