RGD:13615327 Rat Genome Database

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Variant: RGD:13615327 -  Homo sapiens

RGD ID: 13615327
RS ID: rs1555274325
ClinVar ID: CV527834
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 77,574,601
GRCh38 13 77,000,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_006484.2:p.Phe192Val
NG_009064.1:g.13543T>G
NC_000013.11:g.77000466T>G
NC_000013.10:g.77574601T>G
More... 		12/18/2017 3 prime utr variant|missense variant uncertain significance Ceroid storage disease
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: F to V (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISGNMVNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQ
FYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000632697 CLINVAR
dbSNP (RS) rs1555274325 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 608102 CLINVAR
SNOMED CT 42012007 CLINVAR