RGD:156100925 Rat Genome Database

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Variant: RGD:156100925 -  Homo sapiens

RGD ID: 156100925
ClinVar ID: CV1981970
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  LOC130009913  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 77,566,270
GRCh38 13 76,992,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006493.4:c.37A>G
LRG_692:g.5212A>G
NG_009064.1:g.5212A>G
NC_000013.11:g.76992135A>G
More... 		08/13/2022 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: M to V (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEVRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQ
FYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL*

Gene Symbol:CLN5
Accession:NM_001366624
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEVRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISDGETEAQRG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002622211 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN5 CLINVAR
  LOC130009913 CLINVAR
OMIM 608102 CLINVAR
SNOMED CT 42012007 CLINVAR