RGD:156167933 Rat Genome Database

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Variant: RGD:156167933 -  Homo sapiens

RGD ID: 156167933
ClinVar ID: CV2237274
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127824091  WNT10B  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 49,361,917
GRCh38 12 48,968,134
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003394.4:c.523C>G
NG_125611.1:g.625G>C
NG_023347.1:g.8725C>G
NC_000012.12:g.48968134G>C
More... 		10/27/2021 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: H to D (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEPRPRPPPSGLAGLLFLALCSRALSNEILGLKLPGEPPLTANTVCLTLSGLSKRQLGLCLRNPDVTASALQGLHIAV
HECQHQLRDQRWNCSALEGGGRLPHHSAILKRGFRESAFSFSMLAAGVMHAVATACSLGKLVSCGCGWKGSGEQDRLRAK
LLQLQALSRGKSFPDSLPSPGPGSSPSPGPQDTWEWGGCNHDMDFGEKFSRDFLDSREAPRDIQARMRIHNNRVGRQVVT
ENLKRKCKCHGTSGSCQFKTCWRAAPEFRAVGAALRERLGRAIFIDTHNRNSGAFQPRLRPRRLSGELVYFEKSPDFCER
DPTMGSPGTRGRACNKTSRLLDGCGSLCCGRGHNVLRQTRVERCHCRFHWCCYVLCDECKVTEWVNVCK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002787891 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene WNT10B CLINVAR
OMIM 601906 CLINVAR