ClinVar

NM_000465.4(BARD1):c.365-7C>T

Gene:

BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781516 (on Assembly GRCh38)
• Chr2: 215646240 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.365-7C>T

HGVS:

• NC_000002.12:g.214781516G>A
• NG_012047.3:g.33196C>T
• NM_000465.4:c.365-7C>TMANE SELECT
• NM_001282543.2:c.308-7C>T
• NM_001282545.2:c.215+15545C>T
• NM_001282548.2:c.158+27896C>T
• NM_001282549.2:c.364+10781C>T
• LRG_297t1:c.365-7C>T
• LRG_297:g.33196C>T
• NC_000002.11:g.215646240G>A
• NG_012047.2:g.33189C>T
• NM_000465.2:c.365-7C>T
• NM_000465.3:c.365-7C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs745929983

NCBI 1000 Genomes Browser:

rs745929983

Molecular consequence:

• NM_000465.4:c.365-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282543.2:c.308-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282545.2:c.215+15545C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+27896C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10781C>T - intron variant - [Sequence Ontology: SO:0001627]