ClinVar

NM_000465.4(BARD1):c.2252G>A (p.Arg751Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214728758 (on Assembly GRCh38)
• Chr2: 215593482 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.2252G>A (p.Arg751Gln)

HGVS:

• NC_000002.12:g.214728758C>T
• NG_012047.3:g.85954G>A
• NM_000465.4:c.2252G>AMANE SELECT
• NM_001282543.2:c.2195G>A
• NM_001282545.2:c.899G>A
• NM_001282548.2:c.842G>A
• NM_001282549.2:c.713G>A
• NP_000456.2:p.Arg751Gln
• NP_001269472.1:p.Arg732Gln
• NP_001269474.1:p.Arg300Gln
• NP_001269477.1:p.Arg281Gln
• NP_001269478.1:p.Arg238Gln
• LRG_297t1:c.2252G>A
• LRG_297:g.85954G>A
• LRG_297p1:p.Arg751Gln
• NC_000002.11:g.215593482C>T
• NG_012047.2:g.85947G>A
• NM_000465.2:c.2252G>A
• NM_000465.3:c.2252G>A
• NR_104212.2:n.2217G>A
• NR_104215.2:n.2160G>A
• NR_104216.2:n.1416G>A
• p.R751Q

This HGVS expression did not pass validation

Protein change:

R238Q

Links:

dbSNP: rs587782246

NCBI 1000 Genomes Browser:

rs587782246

Molecular consequence:

• NM_000465.4:c.2252G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.2195G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282545.2:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282548.2:c.842G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282549.2:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.2217G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.2160G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104216.2:n.1416G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]