RGD:11350927 Rat Genome Database

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Variant: RGD:11350927 -  Homo sapiens

RGD ID: 11350927
RS ID: rs144257411
ClinVar ID: CV237043
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYC1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 145,150,833
GRCh38 8 144,095,930
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033872.1:g.5896T>C
NC_000008.11:g.144095930T>C
NC_000008.10:g.145150833T>C
NM_001916.5:c.227T>C
More... 		04/08/2020 missense variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYC1
Accession:NM_001916
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAASLRGVVLGPRGAGLPGARARGLLCSARPGQLPLRTPQAVALSSKSGLSRGRKVMLSALGMLAAGGAGLATALHS
AVSASDLELHPPSYPWSHRGLLSSLDHTSIRRGFQVYKQVCASCHSMDFVAYRHLVGVCYTEDEAKELAAEVEVQDGPNE
DGEMFMRPGKLFDYFPKPYPNSEAARAANNGALPPDLSYIVRARHGGEDYVFSLLTGYCEPPTGVSLREGLYFNPYFPGQ
AIAMAPPIYTDVLEFDDGTPATMSQIAKDVCTFLRWASEPEHDHRKRMGLKMLMMMALLVPLVYTIKRHKWSVLKSRKLA
YRPPK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000224646 CLINVAR
dbSNP (RS) rs144257411 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYC1 CLINVAR
OMIM 123980 CLINVAR