RGD:13478520 Rat Genome Database

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Variant: RGD:13478520 -  Homo sapiens

RGD ID: 13478520
RS ID: rs772141128
ClinVar ID: CV445016
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WNT10B  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 49,359,961
GRCh38 12 48,966,178
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023347.1:g.10681C>G
NC_000012.11:g.49359961G>C
NP_003385.2:p.Arg363Gly
NC_000012.12:g.48966178G>C
More... 		09/26/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:WNT10B
Accession:NM_003394
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEPRPRPPPSGLAGLLFLALCSRALSNEILGLKLPGEPPLTANTVCLTLSGLSKRQLGLCLRNPDVTASALQGLHIAV
HECQHQLRDQRWNCSALEGGGRLPHHSAILKRGFRESAFSFSMLAAGVMHAVATACSLGKLVSCGCGWKGSGEQDRLRAK
LLQLQALSRGKSFPHSLPSPGPGSSPSPGPQDTWEWGGCNHDMDFGEKFSRDFLDSREAPRDIQARMRIHNNRVGRQVVT
ENLKRKCKCHGTSGSCQFKTCWRAAPEFRAVGAALRERLGRAIFIDTHNRNSGAFQPRLRPRRLSGELVYFEKSPDFCER
DPTMGSPGTRGRACNKTSRLLDGCGSLCCGRGHNVLRQTRVEGCHCRFHWCCYVLCDECKVTEWVNVCK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000520692 CLINVAR
dbSNP (RS) rs772141128 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene WNT10B CLINVAR
OMIM 601906 CLINVAR