RGD:10395788 Rat Genome Database

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Variant: RGD:10395788 -  Homo sapiens

RGD ID: 10395788
RS ID: rs147623032
ClinVar ID: CV202888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 68,510,936
GRCh38 15 68,218,598
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008764.2:g.43614G>A
NC_000015.10:g.68218598C>T
NC_000015.9:g.68510936C>T
NP_060352.1:p.Asp46Asn
More... 		08/05/2014 missense variant uncertain significance Ceroid storage disease; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN6
Accession:NM_001411068
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKKHGSVSADEAARTAPFHLNLW
FYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHL
VGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPG
PALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRK
KYPGVIYVPEPWAFYTLHVSSRH*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKKHGSVSADEAARTAPFHLNLW
FYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHL
VGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPG
PALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRK
KYPGVIYVPEPWAFYTLHVSSRH*

Gene Symbol:CLN6
Accession:NM_017882
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLNLWFYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPS
VGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPE
TLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA
MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPWAFYTLHVSSRH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187089 CLINVAR
  RCV002517849 CLINVAR
dbSNP (RS) rs147623032 CLINVAR
MedGen C0027877 CLINVAR
  CN517202 CLINVAR
NCBI Gene CLN6 CLINVAR
OMIM 606725 CLINVAR
SNOMED CT 42012007 CLINVAR