ClinVar

NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter)

Gene:

WNT2B:Wnt family member 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

• Chr1: 112514896 (on Assembly GRCh38)
• Chr1: 113057518 (on Assembly GRCh37)

Preferred name:

NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter)

HGVS:

• NC_000001.11:g.112514896C>T
• NG_052953.1:g.53356C>T
• NM_001291880.1:c.-72C>T
• NM_004185.4:c.148C>T
• NM_024494.3:c.205C>TMANE SELECT
• NP_004176.2:p.Arg50Ter
• NP_078613.1:p.Arg69Ter
• NC_000001.10:g.113057518C>T
• NM_024494.2:c.205C>T

This HGVS expression did not pass validation

Protein change:

R50*; ARG69TER

Links:

OMIM: 601968.0001; dbSNP: rs370244148

NCBI 1000 Genomes Browser:

rs370244148

Molecular consequence:

• NM_001291880.1:c.-72C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_004185.4:c.148C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_024494.3:c.205C>T - nonsense - [Sequence Ontology: SO:0001587]