ClinVar

NM_000546.6(TP53):c.991C>T (p.Gln331Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7673537 (on Assembly GRCh38)
• Chr17: 7576855 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.991C>T (p.Gln331Ter)

HGVS:

• NC_000017.11:g.7673537G>A
• NG_017013.2:g.19014C>T
• NM_000546.4:c.991C>T
• NM_000546.6:c.991C>TMANE SELECT
• NM_001126112.3:c.991C>T
• NM_001126113.3:c.991C>T
• NM_001126114.3:c.991C>T
• NM_001126115.2:c.595C>T
• NM_001126116.2:c.595C>T
• NM_001126117.2:c.595C>T
• NM_001126118.2:c.874C>T
• NM_001276695.3:c.874C>T
• NM_001276696.3:c.874C>T
• NM_001276697.3:c.514C>T
• NM_001276698.3:c.514C>T
• NM_001276699.3:c.514C>T
• NM_001276760.3:c.874C>T
• NM_001276761.3:c.874C>T
• NP_000537.3:p.Gln331Ter
• NP_001119584.1:p.Gln331Ter
• NP_001119585.1:p.Gln331Ter
• NP_001119586.1:p.Gln331Ter
• NP_001119587.1:p.Gln199Ter
• NP_001119588.1:p.Gln199Ter
• NP_001119589.1:p.Gln199Ter
• NP_001119590.1:p.Gln292Ter
• NP_001263624.1:p.Gln292Ter
• NP_001263625.1:p.Gln292Ter
• NP_001263626.1:p.Gln172Ter
• NP_001263627.1:p.Gln172Ter
• NP_001263628.1:p.Gln172Ter
• NP_001263689.1:p.Gln292Ter
• NP_001263690.1:p.Gln292Ter
• LRG_321t1:c.991C>T
• LRG_321:g.19014C>T
• NC_000017.10:g.7576855G>A
• NC_000017.10:g.7576855G>A
• NM_000546.5:c.991C>T
• NM_000546.6:c.991C>T

This HGVS expression did not pass validation

Protein change:

Q172*

Links:

dbSNP: rs1597359130

NCBI 1000 Genomes Browser:

rs1597359130

Molecular consequence:

• NM_000546.6:c.991C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126112.3:c.991C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126113.3:c.991C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126114.3:c.991C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126115.2:c.595C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126116.2:c.595C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126117.2:c.595C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126118.2:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276695.3:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276696.3:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276697.3:c.514C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276698.3:c.514C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276699.3:c.514C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276760.3:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276761.3:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]