ClinVar

NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32340316 (on Assembly GRCh38)
• Chr13: 32914453 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)

HGVS:

• NC_000013.11:g.32340316G>T
• NG_012772.3:g.29837G>T
• NM_000059.4:c.5961G>TMANE SELECT
• NP_000050.2:p.Gln1987His
• NP_000050.3:p.Gln1987His
• LRG_293t1:c.5961G>T
• LRG_293:g.29837G>T
• LRG_293p1:p.Gln1987His
• NC_000013.10:g.32914453G>T
• NM_000059.3:c.5961G>T

This HGVS expression did not pass validation

Protein change:

Q1987H

Links:

dbSNP: rs387907575

NCBI 1000 Genomes Browser:

rs387907575

Molecular consequence:

• NM_000059.4:c.5961G>T - missense variant - [Sequence Ontology: SO:0001583]