ClinVar

NM_001003694.2(BRPF1):c.1825C>T (p.Arg609Cys)

Gene:

BRPF1:bromodomain and PHD finger containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 9741410 (on Assembly GRCh38)
• Chr3: 9783094 (on Assembly GRCh37)

Preferred name:

NM_001003694.2(BRPF1):c.1825C>T (p.Arg609Cys)

HGVS:

• NC_000003.12:g.9741410C>T
• NG_052955.1:g.14682C>T
• NM_001003694.2:c.1825C>TMANE SELECT
• NM_001319049.2:c.1825C>T
• NM_001319050.2:c.1825C>T
• NM_004634.3:c.1825C>T
• NP_001003694.1:p.Arg609Cys
• NP_001305978.1:p.Arg609Cys
• NP_001305979.1:p.Arg609Cys
• NP_004625.2:p.Arg609Cys
• NC_000003.11:g.9783094C>T
• NR_160918.1:n.2239C>T

This HGVS expression did not pass validation

Protein change:

R609C

Links:

dbSNP: rs2077027454

NCBI 1000 Genomes Browser:

rs2077027454

Molecular consequence:

• NM_001003694.2:c.1825C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319049.2:c.1825C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319050.2:c.1825C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004634.3:c.1825C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_160918.1:n.2239C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]