RGD:13827737 Rat Genome Database

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Variant: RGD:13827737 -  Homo sapiens

RGD ID: 13827737
RS ID: rs1564730440
ClinVar ID: CV578642
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARL3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 104,449,696
GRCh38 10 102,689,939
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.10:g.104449696T>C
NP_004302.1:p.Tyr90Cys
NC_000010.11:g.102689939T>C
NM_004311.4:c.269A>G
More... 		09/01/2021 missense variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARL3
Accession:XM_017016260
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLSILRKLKSAPDQEVRILLLGLDNAGKTTLLKQLASEDISHITPTQGFNIKSVQSQGFKLNVWDIGGQRKIRPYWKN
YFENTDILICVIDSADRKRFEETGQELAELLEEEKLSCVPVLIFANKQDLLTAAPASEIAEGLNLHTIRDRVWQIQSCSA
LTGEGVQDGMNWVCKNVNAKKK*

Gene Symbol:ARL3
Accession:NM_004311
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLSILRKLKSAPDQEVRILLLGLDNAGKTTLLKQLASEDISHITPTQGFNIKSVQSQGFKLNVWDIGGQRKIRPYWKN
YFENTDILICVIDSADRKRFEETGQELAELLEEEKLSCVPVLIFANKQDLLTAAPASEIAEGLNLHTIRDRVWQIQSCSA
LTGEGVQDGMNWVCKNVNAKKK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26964041   PMID:28492532   PMID:30932721  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000714966 CLINVAR
  RCV001862010 CLINVAR
dbSNP (RS) rs1564730440 CLINVAR
MedGen C3661900 CLINVAR
  C4748536 CLINVAR
NCBI Gene ARL3 CLINVAR
OMIM 604695 CLINVAR
  618173 CLINVAR
OMIM Allele 604695.0003 CLINVAR