ClinVar

NM_000465.4(BARD1):c.365-9T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781518 (on Assembly GRCh38)
• Chr2: 215646242 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.365-9T>C

HGVS:

• NC_000002.12:g.214781518A>G
• NG_012047.3:g.33194T>C
• NM_000465.4:c.365-9T>CMANE SELECT
• NM_001282543.2:c.308-9T>C
• NM_001282545.2:c.215+15543T>C
• NM_001282548.2:c.158+27894T>C
• NM_001282549.2:c.364+10779T>C
• LRG_297t1:c.365-9T>C
• LRG_297:g.33194T>C
• NC_000002.11:g.215646242A>G
• NG_012047.2:g.33187T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1695037195

NCBI 1000 Genomes Browser:

rs1695037195

Molecular consequence:

• NM_000465.4:c.365-9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282543.2:c.308-9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282545.2:c.215+15543T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+27894T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10779T>C - intron variant - [Sequence Ontology: SO:0001627]