RGD:26901150 Rat Genome Database

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Variant: RGD:26901150 -  Homo sapiens

RGD ID: 26901150
RS ID: rs1595818258
ClinVar ID: CV842632
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN6  LOC127829932  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 68,504,068
GRCh38 15 68,211,730
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017882.3:c.431A>G
NG_008764.2:g.50482A>G
NC_000015.10:g.68211730T>C
NC_000015.9:g.68504068T>C
More... 		12/30/2019 missense variant uncertain significance Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN6
Accession:NM_017882
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPS
VGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHLVGDSVNHRLLFSGYQRHLSVRENPIIKNLKPE
TLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA
MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPWAFYTLHVSSRH*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKKHGSVSADEAARTAPFHLDLW
FYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHL
VGDSVNHRLLFSGYQRHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPG
PALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRK
KYPGVIYVPEPWAFYTLHVSSRH*

Gene Symbol:CLN6
Accession:NM_001411068
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKKHGSVSADEAARTAPFHLDLW
FYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHL
VGDSVNHRLLFSGYQRHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPG
PALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRK
KYPGVIYVPEPWAFYTLHVSSRH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001042065 CLINVAR
dbSNP (RS) rs1595818258 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN6 CLINVAR
OMIM 606725 CLINVAR
SNOMED CT 42012007 CLINVAR