ClinVar

NM_000546.6(TP53):c.154C>T (p.Gln52Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7676215 (on Assembly GRCh38)
• Chr17: 7579533 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.154C>T (p.Gln52Ter)

HGVS:

• NC_000017.11:g.7676215G>A
• NG_017013.2:g.16336C>T
• NM_000546.6:c.154C>TMANE SELECT
• NM_001126112.3:c.154C>T
• NM_001126113.3:c.154C>T
• NM_001126114.3:c.154C>T
• NM_001126118.2:c.37C>T
• NM_001276695.3:c.37C>T
• NM_001276696.3:c.37C>T
• NM_001276760.3:c.37C>T
• NM_001276761.3:c.37C>T
• NP_000537.3:p.Gln52Ter
• NP_001119584.1:p.Gln52Ter
• NP_001119585.1:p.Gln52Ter
• NP_001119586.1:p.Gln52Ter
• NP_001119590.1:p.Gln13Ter
• NP_001263624.1:p.Gln13Ter
• NP_001263625.1:p.Gln13Ter
• NP_001263689.1:p.Gln13Ter
• NP_001263690.1:p.Gln13Ter
• LRG_321t1:c.154C>T
• LRG_321:g.16336C>T
• NC_000017.10:g.7579533G>A
• NM_000546.5:c.154C>T

This HGVS expression did not pass validation

Protein change:

Q13*

Links:

dbSNP: rs2151042795

NCBI 1000 Genomes Browser:

rs2151042795

Molecular consequence:

• NM_000546.6:c.154C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126112.3:c.154C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126113.3:c.154C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126114.3:c.154C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001126118.2:c.37C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276695.3:c.37C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276696.3:c.37C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276760.3:c.37C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001276761.3:c.37C>T - nonsense - [Sequence Ontology: SO:0001587]