RGD:405666212 Rat Genome Database

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Variant: RGD:405666212 -  Homo sapiens

RGD ID: 405666212
ClinVar ID: CV3239455
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYC1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 145,152,148
GRCh38 8 144,097,245
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001916.5:c.887T>C
NG_033872.2:g.7171T>C
NG_033872.1:g.7211T>C
NC_000008.11:g.144097245T>C
More... 		01/04/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CYC1
Accession:NM_001916
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 296
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAASLRGVVLGPRGAGLPGARARGLLCSARPGQLPLRTPQAVALSSKSGLSRGRKVMLSALGMLAAGGAGLAMALHS
AVSASDLELHPPSYPWSHRGLLSSLDHTSIRRGFQVYKQVCASCHSMDFVAYRHLVGVCYTEDEAKELAAEVEVQDGPNE
DGEMFMRPGKLFDYFPKPYPNSEAARAANNGALPPDLSYIVRARHGGEDYVFSLLTGYCEPPTGVSLREGLYFNPYFPGQ
AIAMAPPIYTDVLEFDDGTPATMSQIAKDVCTFLRWASEPEHDHRKRMGLKMLMMTALLVPLVYTIKRHKWSVLKSRKLA
YRPPK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004367699 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CYC1 CLINVAR
OMIM 123980 CLINVAR