RGD:15189641 Rat Genome Database

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Variant: RGD:15189641 -  Homo sapiens

RGD ID: 15189641
RS ID: rs112094045
ClinVar ID: CV697201
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FRZB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 183,699,682
GRCh38 2 182,834,955
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001463.4:c.872T>C
NG_017197.1:g.36817T>C
NC_000002.12:g.182834955A>G
NC_000002.11:g.183699682A>G
More...
08/01/2023 missense variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FRZB
Accession:NM_001463
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCGSPGGMLLLRAGLLALAALCLLRVPGARAAACEPVRIPLCKSLPWNMTKMPNHLHHSTQANAILAIEQFEGLLGTHC
SPDLLFFLCAMYAPICTIDFQHEPIKPCKSVCERARQGCEPILIKYRHSWPENLACEELPVYDRGVCISPEAIVTADGAD
FPMDSSNGNCRGASSERCKCKPIRATQKTYFRNNYNYVIRAKVKEIKTKCHDVTAVVEVKEILKSSLVNIPRDTVNLYTS
SGCLCPPLNVNEEYIIMGYEDEERSRLLLVEGSIAEKWKDRLGKKVKRWDTKLRHLGLSKSDSSNSDSTQSQKSGRNSNP
RQARN*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000954239 CLINVAR
dbSNP (RS) rs112094045 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FRZB CLINVAR
OMIM 605083 CLINVAR