RGD:10395767 Rat Genome Database

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Variant: RGD:10395767 -  Homo sapiens

RGD ID: 10395767
RS ID: rs745767054
ClinVar ID: CV202792
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 77,575,046
GRCh38 13 77,000,911
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.13988A>C
NC_000013.11:g.77000911A>C
NC_000013.10:g.77575046A>C
LRG_692t1:c.1166A>C
More... 		09/05/2021 3 prime utr variant|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:3UTRS;EXON

Gene Symbol:CLN5
Accession:NM_006493
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQ
FYLFYNFEYWFLPMKFPFITITYEEIPLPIRNKTLSGL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187057 CLINVAR
  RCV000532983 CLINVAR
  RCV001114862 CLINVAR
  RCV002314703 CLINVAR
dbSNP (RS) rs745767054 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
  C1850442 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 256731 CLINVAR
  608102 CLINVAR
SNOMED CT 42012007 CLINVAR