ClinVar

NM_000546.6(TP53):c.374C>G (p.Thr125Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7675995 (on Assembly GRCh38)
• Chr17: 7579313 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.374C>G (p.Thr125Arg)

HGVS:

• NC_000017.11:g.7675995G>C
• NG_017013.2:g.16556C>G
• NM_000546.6:c.374C>GMANE SELECT
• NM_001126112.3:c.374C>G
• NM_001126113.3:c.374C>G
• NM_001126114.3:c.374C>G
• NM_001126118.2:c.257C>G
• NM_001276695.3:c.257C>G
• NM_001276696.3:c.257C>G
• NM_001276760.3:c.257C>G
• NM_001276761.3:c.257C>G
• NP_000537.3:p.Thr125Arg
• NP_000537.3:p.Thr125Arg
• NP_001119584.1:p.Thr125Arg
• NP_001119585.1:p.Thr125Arg
• NP_001119586.1:p.Thr125Arg
• NP_001119590.1:p.Thr86Arg
• NP_001263624.1:p.Thr86Arg
• NP_001263625.1:p.Thr86Arg
• NP_001263689.1:p.Thr86Arg
• NP_001263690.1:p.Thr86Arg
• LRG_321t1:c.374C>G
• LRG_321:g.16556C>G
• LRG_321p1:p.Thr125Arg
• NC_000017.10:g.7579313G>C
• NM_000546.4:c.374C>G
• NM_000546.5:c.374C>G

This HGVS expression did not pass validation

Protein change:

T125R

Links:

dbSNP: rs786201057

NCBI 1000 Genomes Browser:

rs786201057

Molecular consequence:

• NM_000546.6:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126112.3:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126113.3:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126114.3:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126118.2:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276695.3:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276696.3:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276760.3:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276761.3:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]