RGD:38467034 Rat Genome Database

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Variant: RGD:38467034 -  Homo sapiens

RGD ID: 38467034
RS ID: rs754303449
ClinVar ID: CV957135
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  LOC130009913  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 77,566,395
GRCh38 13 76,992,260
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_692t1:c.309G>A
LRG_692:g.5337G>A
NG_009064.1:g.5337G>A
NC_000013.11:g.76992260G>A
More... 		10/04/2023 synonymous variant likely benign|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: P to P (synonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQ
FYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL*

Gene Symbol:CLN5
Accession:NM_001366624
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 54
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 RCV001241333 CLINVAR
dbSNP (RS) rs754303449 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN5 CLINVAR
  LOC130009913 CLINVAR
OMIM 608102 CLINVAR
SNOMED CT 42012007 CLINVAR