ClinVar

NM_001003694.2(BRPF1):c.3190G>A (p.Gly1064Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 9745694 (on Assembly GRCh38)
• Chr3: 9787378 (on Assembly GRCh37)

Preferred name:

NM_001003694.2(BRPF1):c.3190G>A (p.Gly1064Ser)

HGVS:

• NC_000003.12:g.9745694G>A
• NG_012106.1:g.751G>A
• NG_012106.2:g.744G>A
• NG_052955.1:g.18966G>A
• NM_001003694.2:c.3190G>AMANE SELECT
• NM_001319049.2:c.2887G>A
• NM_001319050.2:c.3169G>A
• NM_001410704.1:c.3187G>A
• NM_004634.3:c.3172G>A
• NP_001003694.1:p.Gly1064Ser
• NP_001305978.1:p.Gly963Ser
• NP_001305979.1:p.Gly1057Ser
• NP_001397633.1:p.Gly1063Ser
• NP_004625.2:p.Gly1058Ser
• NC_000003.11:g.9787378G>A
• NR_160918.1:n.3773G>A

This HGVS expression did not pass validation

Protein change:

G1057S

Molecular consequence:

• NM_001003694.2:c.3190G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319049.2:c.2887G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319050.2:c.3169G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410704.1:c.3187G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004634.3:c.3172G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_160918.1:n.3773G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1