RGD:151862916 Rat Genome Database

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Variant: RGD:151862916 -  Homo sapiens

RGD ID: 151862916
RS ID: rs2034192027
ClinVar ID: CV1454272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  LOC130009913  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 77,566,383
GRCh38 13 76,992,248
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001366624.2:c.150G>C
NM_006493.4:c.150G>C
LRG_692:g.5325G>C
NG_009064.1:g.5325G>C
More... 		11/05/2020 synonymous variant likely benign Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN5
Accession:NM_006493
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQ
FYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL*

Gene Symbol:CLN5
Accession:NM_001366624
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISDGETEAQRG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001938791 CLINVAR
dbSNP (RS) rs2034192027 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN5 CLINVAR
  LOC130009913 CLINVAR
OMIM 608102 CLINVAR
SNOMED CT 42012007 CLINVAR