ClinVar

NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg)

Genes:

TP53:tumor protein p53 [Gene - OMIM - HGNC]
WRAP53:WD repeat containing antisense to TP53 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7689055 (on Assembly GRCh38)
• Chr17: 7592373 (on Assembly GRCh37)

Preferred name:

NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg)

HGVS:

• NC_000017.11:g.7689055C>G
• NG_017013.2:g.3496G>C
• NG_028245.1:g.7985C>G
• NM_001143990.2:c.407C>G
• NM_001143991.2:c.407C>G
• NM_001143992.2:c.407C>GMANE SELECT
• NM_018081.2:c.407C>G
• NP_001137462.1:p.Pro136Arg
• NP_001137463.1:p.Pro136Arg
• NP_001137464.1:p.Pro136Arg
• NP_060551.2:p.Pro136Arg
• LRG_375t1:c.407C>G
• LRG_321:g.3496G>C
• LRG_375:g.7985C>G
• LRG_375p1:p.Pro136Arg
• NC_000017.10:g.7592373C>G
• Q9BUR4:p.Pro136Arg

This HGVS expression did not pass validation

Protein change:

P136R

Links:

UniProtKB: Q9BUR4#VAR_057618; dbSNP: rs34067256

Molecular consequence:

• NM_001143990.2:c.407C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143991.2:c.407C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143992.2:c.407C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_018081.2:c.407C>G - missense variant - [Sequence Ontology: SO:0001583]