RGD:15176445 Rat Genome Database

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Variant: RGD:15176445 -  Homo sapiens

RGD ID: 15176445
RS ID: rs76168219
ClinVar ID: CV724665
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCF1  LOC100130987  LOC127821607  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 67,135,026
GRCh38 11 67,367,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166212.2:c.58C>T
NM_013246.3:c.88C>T
NG_013377.1:g.11623C>T
NC_000011.10:g.67367555G>A
More... 		01/09/2019 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CLCF1
Accession:NM_001166212
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLACLCTVLWHLPAVPALNCTGDPGPGPSIQKTYDLTRYLEHQLRSLAGTYLNYLGPPFNEPDFNPPRLGAETLPRATVD
LEVWRSLNDKLRLTQNYEAYSHLLCYLRGLNRQAATAELRRSLAHFCTSLQGLLGSIAGVMAALGYPLPQPLPGTEPTWT
PGPAHSDFLQKMDDFWLLKELQTWLWRSAKDFNRLKKKMQPPAAAVTLHLGAHGF*

Gene Symbol:CLCF1
Accession:NM_013246
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLRAGDSWGMLACLCTVLWHLPAVPALNCTGDPGPGPSIQKTYDLTRYLEHQLRSLAGTYLNYLGPPFNEPDFNPPRLG
AETLPRATVDLEVWRSLNDKLRLTQNYEAYSHLLCYLRGLNRQAATAELRRSLAHFCTSLQGLLGSIAGVMAALGYPLPQ
PLPGTEPTWTPGPAHSDFLQKMDDFWLLKELQTWLWRSAKDFNRLKKKMQPPAAAVTLHLGAHGF*

Gene Symbol:LOC100130987
Accession:NR_024469
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000884584 CLINVAR
dbSNP (RS) rs76168219 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 100130987 CLINVAR
  CLCF1 CLINVAR
OMIM 607672 CLINVAR