ClinVar

NM_000546.6(TP53):c.646G>T (p.Val216Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7674885 (on Assembly GRCh38)
• Chr17: 7578203 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.646G>T (p.Val216Leu)

HGVS:

• NC_000017.11:g.7674885C>A
• NG_017013.2:g.17666G>T
• NM_000546.6:c.646G>TMANE SELECT
• NM_001126112.3:c.646G>T
• NM_001126113.3:c.646G>T
• NM_001126114.3:c.646G>T
• NM_001126115.2:c.250G>T
• NM_001126116.2:c.250G>T
• NM_001126117.2:c.250G>T
• NM_001126118.2:c.529G>T
• NM_001276695.3:c.529G>T
• NM_001276696.3:c.529G>T
• NM_001276697.3:c.169G>T
• NM_001276698.3:c.169G>T
• NM_001276699.3:c.169G>T
• NM_001276760.3:c.529G>T
• NM_001276761.3:c.529G>T
• NP_000537.3:p.Val216Leu
• NP_000537.3:p.Val216Leu
• NP_001119584.1:p.Val216Leu
• NP_001119585.1:p.Val216Leu
• NP_001119586.1:p.Val216Leu
• NP_001119587.1:p.Val84Leu
• NP_001119588.1:p.Val84Leu
• NP_001119589.1:p.Val84Leu
• NP_001119590.1:p.Val177Leu
• NP_001263624.1:p.Val177Leu
• NP_001263625.1:p.Val177Leu
• NP_001263626.1:p.Val57Leu
• NP_001263627.1:p.Val57Leu
• NP_001263628.1:p.Val57Leu
• NP_001263689.1:p.Val177Leu
• NP_001263690.1:p.Val177Leu
• LRG_321t1:c.646G>T
• LRG_321:g.17666G>T
• LRG_321p1:p.Val216Leu
• NC_000017.10:g.7578203C>A
• NM_000546.4:c.646G>T
• NM_000546.5:c.646G>T

This HGVS expression did not pass validation

Protein change:

V177L

Links:

dbSNP: rs730882025

NCBI 1000 Genomes Browser:

rs730882025

Molecular consequence:

• NM_000546.6:c.646G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126112.3:c.646G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126113.3:c.646G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126114.3:c.646G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126115.2:c.250G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126116.2:c.250G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126117.2:c.250G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126118.2:c.529G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276695.3:c.529G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276696.3:c.529G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276697.3:c.169G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276698.3:c.169G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276699.3:c.169G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276760.3:c.529G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276761.3:c.529G>T - missense variant - [Sequence Ontology: SO:0001583]