ClinVar

NM_000059.4(BRCA2):c.67+16A>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32316543 (on Assembly GRCh38)
• Chr13: 32890680 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.67+16A>T

HGVS:

• NC_000013.11:g.32316543A>T
• NG_012772.3:g.6064A>T
• NG_017006.2:g.3821T>A
• NM_000059.4:c.67+16A>TMANE SELECT
• LRG_293t1:c.67+16A>T
• LRG_293:g.6064A>T
• NC_000013.10:g.32890680A>T
• NG_017006.1:g.412T>A
• NM_000059.3:c.67+16A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs529148674

NCBI 1000 Genomes Browser:

rs529148674

Molecular consequence:

• NM_000059.4:c.67+16A>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1