ClinVar

NM_000465.4(BARD1):c.33G>T (p.Gln11His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214809537 (on Assembly GRCh38)
• Chr2: 215674261 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.33G>T (p.Gln11His)

Other names:

p.Q11H:CAG>CAT

HGVS:

• NC_000002.12:g.214809537C>A
• NG_012047.3:g.5175G>T
• NM_000465.4:c.33G>TMANE SELECT
• NM_001282543.2:c.33G>T
• NM_001282545.2:c.33G>T
• NM_001282548.2:c.33G>T
• NM_001282549.2:c.33G>T
• NP_000456.2:p.Gln11His
• NP_001269472.1:p.Gln11His
• NP_001269474.1:p.Gln11His
• NP_001269477.1:p.Gln11His
• NP_001269478.1:p.Gln11His
• LRG_297t1:c.33G>T
• LRG_297:g.5175G>T
• LRG_297p1:p.Gln11His
• NC_000002.11:g.215674261C>A
• NG_012047.2:g.5168G>T
• NM_000465.2:c.33G>T
• NM_000465.3:c.33G>T
• NR_104212.2:n.147G>T
• NR_104215.2:n.147G>T
• NR_104216.2:n.147G>T
• p.Q11H

This HGVS expression did not pass validation

Protein change:

Q11H

Links:

dbSNP: rs143914387

NCBI 1000 Genomes Browser:

rs143914387

Molecular consequence:

• NM_000465.4:c.33G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.33G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282545.2:c.33G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282548.2:c.33G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282549.2:c.33G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.147G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.147G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104216.2:n.147G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]