RGD:13802934 Rat Genome Database

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Variant: RGD:13802934 -  Homo sapiens

RGD ID: 13802934
RS ID: rs1312706135
ClinVar ID: CV567750
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 77,574,666
GRCh38 13 77,000,531
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009064.1:g.13608T>A
NC_000013.10:g.77574666T>A
LRG_692:g.13608T>A
NC_000013.11:g.77000531T>A
More... 		04/06/2018 3 prime utr variant|missense variant uncertain significance Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN5
Accession:NM_001366624
Location:3UTRS;EXON

Gene Symbol:CLN5
Accession:NM_006493
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWKVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQ
FYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000690486 CLINVAR
  RCV002406554 CLINVAR
dbSNP (RS) rs1312706135 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 608102 CLINVAR
SNOMED CT 42012007 CLINVAR