RGD:8659315 Rat Genome Database

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Variant: RGD:8659315 -  Homo sapiens

RGD ID: 8659315
RS ID: rs36038805
ClinVar ID: CV134228
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 77,575,068
GRCh38 13 77,000,933
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009064.1:g.14010T>C
NC_000013.11:g.77000933T>C
NC_000013.10:g.77575068T>C
NM_006493.2:c.1188T>C
More... 		12/31/2019 3 prime utr variant|synonymous variant benign|likely benign|conflicting interpretations of pathogenicity infancy <1 / 1 000 000 AllHighlyPenetrant; CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET; Ceroid storage disease; CLN5-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis Finnish variant; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT; none provided
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: P to P (synonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQ
FYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000116752 CLINVAR
  RCV000259654 CLINVAR
  RCV000675524 CLINVAR
  RCV001079952 CLINVAR
  RCV001109214 CLINVAR
  RCV002312075 CLINVAR
dbSNP (RS) rs36038805 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
  C1850442 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN239251 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 256731 CLINVAR
  608102 CLINVAR
SNOMED CT 42012007 CLINVAR