RGD:329369978 Rat Genome Database

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Variant: RGD:329369978 -  Homo sapiens

RGD ID: 329369978
ClinVar ID: CV2424932
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127824090  WNT10B  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 49,360,227
GRCh38 12 48,966,444
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.11:g.49360227G>T
NM_003394.3:c.821C>A
NP_003385.2:p.Ala274Glu
NM_003394.4:c.821C>A
More... 		02/16/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WNT10B
Accession:NM_003394
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEPRPRPPPSGLAGLLFLALCSRALSNEILGLKLPGEPPLTANTVCLTLSGLSKRQLGLCLRNPDVTASALQGLHIAV
HECQHQLRDQRWNCSALEGGGRLPHHSAILKRGFRESAFSFSMLAAGVMHAVATACSLGKLVSCGCGWKGSGEQDRLRAK
LLQLQALSRGKSFPHSLPSPGPGSSPSPGPQDTWEWGGCNHDMDFGEKFSRDFLDSREAPRDIQARMRIHNNRVGRQVVT
ENLKRKCKCHGTSGSCQFKTCWRAAPEFRAVGAELRERLGRAIFIDTHNRNSGAFQPRLRPRRLSGELVYFEKSPDFCER
DPTMGSPGTRGRACNKTSRLLDGCGSLCCGRGHNVLRQTRVERCHCRFHWCCYVLCDECKVTEWVNVCK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003184015 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene WNT10B CLINVAR
OMIM 601906 CLINVAR