ClinVar

NM_001003694.2(BRPF1):c.621G>A (p.Glu207=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 9739020 (on Assembly GRCh38)
• Chr3: 9780704 (on Assembly GRCh37)

Preferred name:

NM_001003694.2(BRPF1):c.621G>A (p.Glu207=)

HGVS:

• NC_000003.12:g.9739020G>A
• NG_052955.1:g.12292G>A
• NM_001003694.2:c.621G>AMANE SELECT
• NM_001319049.2:c.621G>A
• NM_001319050.2:c.621G>A
• NM_004634.3:c.621G>A
• NP_001003694.1:p.Glu207=
• NP_001305978.1:p.Glu207=
• NP_001305979.1:p.Glu207=
• NP_004625.2:p.Glu207=
• NC_000003.11:g.9780704G>A
• NM_001003694.1:c.621G>A
• NR_160918.1:n.1035G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs763209968

NCBI 1000 Genomes Browser:

rs763209968

Molecular consequence:

• NR_160918.1:n.1035G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001003694.2:c.621G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319049.2:c.621G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319050.2:c.621G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004634.3:c.621G>A - synonymous variant - [Sequence Ontology: SO:0001819]