RGD:12743298 Rat Genome Database

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Variant: RGD:12743298 -  Homo sapiens

RGD ID: 12743298
RS ID: rs750937323
ClinVar ID: CV361660
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 68,500,516
GRCh38 15 68,208,178
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.54034T>C
NC_000015.10:g.68208178A>G
NC_000015.9:g.68500516A>G
NP_060352.1:p.Trp300Arg
More... 		05/04/2022 missense variant pathogenic|likely pathogenic|uncertain significance Ceroid lipofuscinosis neuronal 4A autosomal recessive; Ceroid storage disease; CLN6-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis 4A; Neuronal ceroid lipofuscinosis 6; Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN6
Accession:NM_017882
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPS
VGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPE
TLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA
MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPRAFYTLHVSSRH*

Gene Symbol:CLN6
Accession:NM_001411068
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 332
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKKHGSVSADEAARTAPFHLDLW
FYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHL
VGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPG
PALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRK
KYPGVIYVPEPRAFYTLHVSSRH*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 332
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKKHGSVSADEAARTAPFHLDLW
FYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHL
VGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPG
PALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRK
KYPGVIYVPEPRAFYTLHVSSRH*
Variant Samples
Additional References at PubMed
PMID:12673792   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000416280 CLINVAR
  RCV000675067 CLINVAR
  RCV001865306 CLINVAR
  RCV002248651 CLINVAR
dbSNP (RS) rs750937323 CLINVAR
MedGen C0027877 CLINVAR
  C5551375 CLINVAR
  C5561927 CLINVAR
  CN517202 CLINVAR
NCBI Gene CLN6 CLINVAR
OMIM 204300 CLINVAR
  601780 CLINVAR
  606725 CLINVAR
SNOMED CT 42012007 CLINVAR