ClinVar

NM_000465.4(BARD1):c.1816C>T (p.His606Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214745154 (on Assembly GRCh38)
• Chr2: 215609878 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.1816C>T (p.His606Tyr)

HGVS:

• NC_000002.12:g.214745154G>A
• NG_012047.3:g.69558C>T
• NM_000465.2:c.1816C>T
• NM_000465.4:c.1816C>TMANE SELECT
• NM_001282543.2:c.1759C>T
• NM_001282545.2:c.463C>T
• NM_001282548.2:c.406C>T
• NM_001282549.2:c.365-14646C>T
• NP_000456.2:p.His606Tyr
• NP_001269472.1:p.His587Tyr
• NP_001269474.1:p.His155Tyr
• NP_001269477.1:p.His136Tyr
• LRG_297t1:c.1816C>T
• LRG_297:g.69558C>T
• LRG_297p1:p.His606Tyr
• NC_000002.11:g.215609878G>A
• NG_012047.2:g.69551C>T
• NR_104212.2:n.1781C>T
• NR_104215.2:n.1724C>T
• NR_104216.2:n.980C>T

This HGVS expression did not pass validation

Protein change:

H136Y

Links:

dbSNP: rs1559386300

NCBI 1000 Genomes Browser:

rs1559386300

Molecular consequence:

• NM_001282549.2:c.365-14646C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.1816C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.1759C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282545.2:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282548.2:c.406C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.1781C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.1724C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104216.2:n.980C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]