ClinVar

NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7702770 (on Assembly GRCh38)
• Chr17: 7606088 (on Assembly GRCh37)

Preferred name:

NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)

HGVS:

• NC_000017.11:g.7702770C>T
• NG_028245.1:g.21700C>T
• NM_001143990.2:c.1192C>T
• NM_001143991.2:c.1192C>T
• NM_001143992.2:c.1192C>TMANE SELECT
• NM_018081.2:c.1192C>T
• NP_001137462.1:p.Arg398Trp
• NP_001137463.1:p.Arg398Trp
• NP_001137464.1:p.Arg398Trp
• NP_060551.2:p.Arg398Trp
• LRG_375t1:c.1192C>T
• LRG_375:g.21700C>T
• LRG_375p1:p.Arg398Trp
• NC_000017.10:g.7606088C>T
• NM_001143990.1:c.1192C>T
• Q9BUR4:p.Arg398Trp

This HGVS expression did not pass validation

Protein change:

R398W; ARG398TRP

Links:

UniProtKB: Q9BUR4#VAR_065875; OMIM: 612661.0002; dbSNP: rs281865548

NCBI 1000 Genomes Browser:

rs281865548

Molecular consequence:

• NM_001143990.2:c.1192C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143991.2:c.1192C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143992.2:c.1192C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018081.2:c.1192C>T - missense variant - [Sequence Ontology: SO:0001583]