ClinVar

NM_000546.6(TP53):c.869G>A (p.Arg290His)

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7673751 (on Assembly GRCh38)
• Chr17: 7577069 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.869G>A (p.Arg290His)

Other names:

p.R290H:CGC>CAC

HGVS:

• NC_000017.11:g.7673751C>T
• NG_017013.2:g.18800G>A
• NM_000546.6:c.869G>AMANE SELECT
• NM_001126112.3:c.869G>A
• NM_001126113.3:c.869G>A
• NM_001126114.3:c.869G>A
• NM_001126115.1:c.473G>A
• NM_001126115.2:c.473G>A
• NM_001126116.2:c.473G>A
• NM_001126117.2:c.473G>A
• NM_001126118.2:c.752G>A
• NM_001276695.3:c.752G>A
• NM_001276696.3:c.752G>A
• NM_001276697.3:c.392G>A
• NM_001276698.3:c.392G>A
• NM_001276699.3:c.392G>A
• NM_001276760.3:c.752G>A
• NM_001276761.3:c.752G>A
• NP_000537.3:p.Arg290His
• NP_000537.3:p.Arg290His
• NP_001119584.1:p.Arg290His
• NP_001119585.1:p.Arg290His
• NP_001119586.1:p.Arg290His
• NP_001119587.1:p.Arg158His
• NP_001119588.1:p.Arg158His
• NP_001119589.1:p.Arg158His
• NP_001119590.1:p.Arg251His
• NP_001263624.1:p.Arg251His
• NP_001263625.1:p.Arg251His
• NP_001263626.1:p.Arg131His
• NP_001263627.1:p.Arg131His
• NP_001263628.1:p.Arg131His
• NP_001263689.1:p.Arg251His
• NP_001263690.1:p.Arg251His
• LRG_321t1:c.869G>A
• LRG_321:g.18800G>A
• LRG_321p1:p.Arg290His
• NC_000017.10:g.7577069C>T
• NM_000546.4:c.869G>A
• NM_000546.5(TP53):c.869G>A
• NM_000546.5:c.869G>A
• P04637:p.Arg290His
• p.R290H

This HGVS expression did not pass validation

Protein change:

R131H

Links:

UniProtKB: P04637#VAR_045411; dbSNP: rs55819519

NCBI 1000 Genomes Browser:

rs55819519

Molecular consequence:

• NM_000546.6:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126112.3:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126113.3:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126114.3:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126115.2:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126116.2:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126117.2:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126118.2:c.752G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276695.3:c.752G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276696.3:c.752G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276697.3:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276698.3:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276699.3:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276760.3:c.752G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276761.3:c.752G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1