ClinVar

NM_002880.4(RAF1):c.876C>T (p.Ala292=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.2

Genomic location:

• Chr3: 12600266 (on Assembly GRCh38)
• Chr3: 12641765 (on Assembly GRCh37)

Preferred name:

NM_002880.4(RAF1):c.876C>T (p.Ala292=)

HGVS:

• NC_000003.12:g.12600266G>A
• NG_007467.1:g.68914C>T
• NM_001354689.3:c.936C>T
• NM_001354690.3:c.876C>T
• NM_001354691.3:c.633C>T
• NM_001354692.3:c.633C>T
• NM_001354693.3:c.777C>T
• NM_001354694.3:c.693C>T
• NM_001354695.3:c.534C>T
• NM_002880.4:c.876C>TMANE SELECT
• NP_001341618.1:p.Ala312=
• NP_001341619.1:p.Ala292=
• NP_001341620.1:p.Ala211=
• NP_001341621.1:p.Ala211=
• NP_001341622.1:p.Ala259=
• NP_001341623.1:p.Ala231=
• NP_001341624.1:p.Ala178=
• NP_002871.1:p.Ala292=
• NP_002871.1:p.Ala292=
• LRG_413t1:c.876C>T
• LRG_413t2:c.936C>T
• LRG_413:g.68914C>T
• LRG_413p1:p.Ala292=
• LRG_413p2:p.Ala312=
• NC_000003.11:g.12641765G>A
• NM_002880.3:c.876C>T
• NR_148940.3:n.1207C>T
• NR_148941.3:n.1207C>T
• NR_148942.3:n.1207C>T
• c.876C>T
• p.Ala292Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs397516831

NCBI 1000 Genomes Browser:

rs397516831

Molecular consequence:

• NR_148940.3:n.1207C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148941.3:n.1207C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148942.3:n.1207C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001354689.3:c.936C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354690.3:c.876C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354691.3:c.633C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354692.3:c.633C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354693.3:c.777C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354694.3:c.693C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354695.3:c.534C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002880.4:c.876C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1