ClinVar

NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser)

Gene:

RAF1:Raf-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.2

Genomic location:

• Chr3: 12604202 (on Assembly GRCh38)
• Chr3: 12645701 (on Assembly GRCh37)

Preferred name:

NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser)

Other names:

p.R256S:AGG>AGT; NM_002880.3(RAF1):c.768G>T

HGVS:

• NC_000003.12:g.12604202C>A
• NC_000003.12:g.12604202C>A
• NG_007467.1:g.64978G>T
• NM_001354689.3:c.768G>TMANE SELECT
• NM_001354690.3:c.768G>T
• NM_001354691.3:c.525G>T
• NM_001354692.3:c.525G>T
• NM_001354693.3:c.669G>T
• NM_001354694.3:c.525G>T
• NM_001354695.3:c.426G>T
• NM_002880.3:c.768G>T
• NM_002880.4:c.768G>T
• NP_001341618.1:p.Arg256Ser
• NP_001341619.1:p.Arg256Ser
• NP_001341620.1:p.Arg175Ser
• NP_001341621.1:p.Arg175Ser
• NP_001341622.1:p.Arg223Ser
• NP_001341623.1:p.Arg175Ser
• NP_001341624.1:p.Arg142Ser
• NP_002871.1:p.Arg256Ser
• NP_002871.1:p.Arg256Ser
• LRG_413t1:c.768G>T
• LRG_413t2:c.768G>T
• LRG_413:g.64978G>T
• LRG_413p1:p.Arg256Ser
• LRG_413p2:p.Arg256Ser
• NC_000003.11:g.12645701C>A
• NC_000003.11:g.12645701C>A
• NR_148940.3:n.1099G>T
• NR_148941.3:n.1099G>T
• NR_148942.3:n.1099G>T
• P04049:p.Arg256Ser
• c.768G>T

This HGVS expression did not pass validation

Protein change:

R142S

Links:

UniProtKB: P04049#VAR_037807; dbSNP: rs397516826

NCBI 1000 Genomes Browser:

rs397516826

Molecular consequence:

• NM_001354689.3:c.768G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354690.3:c.768G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354691.3:c.525G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354692.3:c.525G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354693.3:c.669G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354694.3:c.525G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354695.3:c.426G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002880.3:c.768G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002880.4:c.768G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148940.3:n.1099G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148941.3:n.1099G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148942.3:n.1099G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1