RGD:11642629 Rat Genome Database

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Variant: RGD:11642629 -  Homo sapiens

RGD ID: 11642629
RS ID: rs367952803
ClinVar ID: CV269249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  LOC130009913  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 77,566,385
GRCh38 13 76,992,250
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006493.2:c.299G>A
NP_001353553.1:p.Arg51His
NP_006484.2:p.Arg51His
LRG_692t1:c.299G>A
More... 		04/16/2020 missense variant uncertain significance 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:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRHHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISDGETEAQRG*

Gene Symbol:CLN5
Accession:NM_006493
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRHHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQ
FYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000725568 CLINVAR
  RCV001047274 CLINVAR
  RCV001275302 CLINVAR
  RCV002314014 CLINVAR
dbSNP (RS) rs367952803 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
  C1850442 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLN5 CLINVAR
  LOC130009913 CLINVAR
OMIM 256731 CLINVAR
  608102 CLINVAR
SNOMED CT 42012007 CLINVAR