RGD:405114375 Rat Genome Database

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Variant: RGD:405114375 -  Homo sapiens

RGD ID: 405114375
ClinVar ID: CV3115368
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WNT3A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 228,238,498
GRCh38 1 228,050,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033131.4:c.455G>T
NC_000001.11:g.228050797G>T
NC_000001.10:g.228238498G>T
NP_149122.1:p.Trp152Leu
08/17/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:WNT3A
Accession:NM_033131
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLGYFLLLCSLKQALGSYPIWWSLAVGPQYSSLGSQPILCASIPGLVPKQLRFCRNYVEIMPSVAEGIKIGIQECQHQ
FRGRRWNCTTVHDSLAIFGPVLDKATRESAFVHAIASAGVAFAVTRSCAEGTAAICGCSSRHQGSPGKGWKLGGCSEDIE
FGGMVSREFADARENRPDARSAMNRHNNEAGRQAIASHMHLKCKCHGLSGSCEVKTCWWSQPDFRAIGDFLKDKYDSASE
MVVEKHRESRGWVETLRPRYTYFKVPTERDLVYYEASPNFCEPNPETGSFGTRDRTCNVSSHGIDGCDLLCCGRGHNARA
ERRREKCRCVFHWCCYVSCQECTRVYDVHTCK*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003814050 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene WNT3A CLINVAR
OMIM 606359 CLINVAR