ClinVar

NM_001003694.2(BRPF1):c.3316C>G (p.Pro1106Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 9745922 (on Assembly GRCh38)
• Chr3: 9787606 (on Assembly GRCh37)

Preferred name:

NM_001003694.2(BRPF1):c.3316C>G (p.Pro1106Ala)

HGVS:

• NC_000003.12:g.9745922C>G
• NG_012106.1:g.979C>G
• NG_052955.1:g.19194C>G
• NM_001003694.2:c.3316C>GMANE SELECT
• NM_001319049.2:c.3013C>G
• NM_001319050.2:c.3295C>G
• NM_004634.3:c.3298C>G
• NP_001003694.1:p.Pro1106Ala
• NP_001305978.1:p.Pro1005Ala
• NP_001305979.1:p.Pro1099Ala
• NP_004625.2:p.Pro1100Ala
• NC_000003.11:g.9787606C>G
• NM_001003694.1:c.3316C>G
• NR_160918.1:n.3899C>G

This HGVS expression did not pass validation

Protein change:

P1005A

Links:

dbSNP: rs2077118005

NCBI 1000 Genomes Browser:

rs2077118005

Molecular consequence:

• NM_001003694.2:c.3316C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319049.2:c.3013C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319050.2:c.3295C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004634.3:c.3298C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_160918.1:n.3899C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1