RGD:28873138 Rat Genome Database

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Variant: RGD:28873138 -  Homo sapiens

RGD ID: 28873138
RS ID: rs1375890703
ClinVar ID: CV871481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 77,574,891
GRCh38 13 77,000,756
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_692t1:c.1011A>G
NG_009064.1:g.13833A>G
NC_000013.11:g.77000756A>G
NM_001366624.2:c.*313A>G
More... 		03/23/2018 3 prime utr variant uncertain significance CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET; CLN5-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis Finnish variant; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT
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: I to M (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTG
SPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCN
QGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAMKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQ
FYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001114861 CLINVAR
dbSNP (RS) rs1375890703 CLINVAR
MedGen C1850442 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 256731 CLINVAR
  608102 CLINVAR