RGD:151749950 Rat Genome Database

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Variant: RGD:151749950 -  Homo sapiens

RGD ID: 151749950
RS ID: rs2154034272
ClinVar ID: CV1430405
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  LOC130009913  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 77,566,340
GRCh38 13 76,992,205
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.107C>T
NM_006493.4:c.107C>T
LRG_692:g.5282C>T
NG_009064.1:g.5282C>T
More... 		11/30/2021 missense variant uncertain significance 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: A to V (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLVVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQ
FYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL*

Gene Symbol:CLN5
Accession:NM_001366624
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLVVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISDGETEAQRG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002006761 CLINVAR
dbSNP (RS) rs2154034272 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN5 CLINVAR
  LOC130009913 CLINVAR
OMIM 608102 CLINVAR
SNOMED CT 42012007 CLINVAR