RGD:127277798 Rat Genome Database

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Variant: RGD:127277798 -  Homo sapiens

RGD ID: 127277798
RS ID: rs2093194013
ClinVar ID: CV1103060
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 68,500,667
GRCh38 15 68,208,329
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_832t1:c.747G>A
NM_017882.3:c.747G>A
LRG_832:g.53883G>A
NG_008764.2:g.53883G>A
More... 		12/02/2019 synonymous variant likely benign Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN6
Accession:NM_001411068
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKKHGSVSADEAARTAPFHLDLW
FYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHL
VGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPG
PALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRK
KYPGVIYVPEPWAFYTLHVSSRH*

Gene Symbol:CLN6
Accession:NM_017882
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPS
VGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPE
TLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA
MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPWAFYTLHVSSRH*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKKHGSVSADEAARTAPFHLDLW
FYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHL
VGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPG
PALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRK
KYPGVIYVPEPWAFYTLHVSSRH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001444626 CLINVAR
dbSNP (RS) rs2093194013 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN6 CLINVAR
OMIM 606725 CLINVAR
SNOMED CT 42012007 CLINVAR