ClinVar

NM_000546.6(TP53):c.841G>C (p.Asp281His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7673779 (on Assembly GRCh38)
• Chr17: 7577097 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.841G>C (p.Asp281His)

HGVS:

• NC_000017.11:g.7673779C>G
• NG_017013.2:g.18772G>C
• NM_000546.6:c.841G>CMANE SELECT
• NM_001126112.3:c.841G>C
• NM_001126113.3:c.841G>C
• NM_001126114.3:c.841G>C
• NM_001126115.2:c.445G>C
• NM_001126116.2:c.445G>C
• NM_001126117.2:c.445G>C
• NM_001126118.2:c.724G>C
• NM_001276695.3:c.724G>C
• NM_001276696.3:c.724G>C
• NM_001276697.3:c.364G>C
• NM_001276698.3:c.364G>C
• NM_001276699.3:c.364G>C
• NM_001276760.3:c.724G>C
• NM_001276761.3:c.724G>C
• NP_000537.3:p.Asp281His
• NP_001119584.1:p.Asp281His
• NP_001119585.1:p.Asp281His
• NP_001119586.1:p.Asp281His
• NP_001119587.1:p.Asp149His
• NP_001119588.1:p.Asp149His
• NP_001119589.1:p.Asp149His
• NP_001119590.1:p.Asp242His
• NP_001263624.1:p.Asp242His
• NP_001263625.1:p.Asp242His
• NP_001263626.1:p.Asp122His
• NP_001263627.1:p.Asp122His
• NP_001263628.1:p.Asp122His
• NP_001263689.1:p.Asp242His
• NP_001263690.1:p.Asp242His
• LRG_321:g.18772G>C
• NC_000017.10:g.7577097C>G
• NM_000546.4:c.841G>C

This HGVS expression did not pass validation

Protein change:

D122H

Links:

dbSNP: rs764146326

Molecular consequence:

• NM_000546.6:c.841G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126112.3:c.841G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126113.3:c.841G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126114.3:c.841G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126115.2:c.445G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126116.2:c.445G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126117.2:c.445G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126118.2:c.724G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276695.3:c.724G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276696.3:c.724G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276697.3:c.364G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276698.3:c.364G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276699.3:c.364G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276760.3:c.724G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276761.3:c.724G>C - missense variant - [Sequence Ontology: SO:0001583]