RGD:151890414 Rat Genome Database

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Variant: RGD:151890414 -  Homo sapiens

RGD ID: 151890414
RS ID: rs199932668
ClinVar ID: CV1350526
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WNT3A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 228,247,077
GRCh38 1 228,059,376
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.970C>T
NC_000001.11:g.228059376C>T
NC_000001.10:g.228247077C>T
NP_149122.1:p.Arg324Trp
More... 		09/01/2021 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WNT3A
Accession:NM_033131
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLGYFLLLCSLKQALGSYPIWWSLAVGPQYSSLGSQPILCASIPGLVPKQLRFCRNYVEIMPSVAEGIKIGIQECQHQ
FRGRRWNCTTVHDSLAIFGPVLDKATRESAFVHAIASAGVAFAVTRSCAEGTAAICGCSSRHQGSPGKGWKWGGCSEDIE
FGGMVSREFADARENRPDARSAMNRHNNEAGRQAIASHMHLKCKCHGLSGSCEVKTCWWSQPDFRAIGDFLKDKYDSASE
MVVEKHRESRGWVETLRPRYTYFKVPTERDLVYYEASPNFCEPNPETGSFGTRDRTCNVSSHGIDGCDLLCCGRGHNARA
ERRWEKCRCVFHWCCYVSCQECTRVYDVHTCK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002038811 CLINVAR
  RCV003365673 CLINVAR
dbSNP (RS) rs199932668 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene WNT3A CLINVAR
OMIM 606359 CLINVAR