RGD:13789273 Rat Genome Database

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Variant: RGD:13789273 -  Homo sapiens

RGD ID: 13789273
RS ID: rs758921701
ClinVar ID: CV548146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 68,500,518
GRCh38 15 68,208,180
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.54032C>T
NC_000015.10:g.68208180G>A
NC_000015.9:g.68500518G>A
NP_060352.1:p.Pro299Leu
More... 		10/16/2021 missense variant pathogenic|likely pathogenic Ceroid lipofuscinosis neuronal 4A autosomal recessive; Ceroid lipofuscinosis, neuronal, 6B (Kufs type); Ceroid storage disease; CLN6-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis 4A; Neuronal ceroid lipofuscinosis 6; Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 331
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKKHGSVSADEAARTAPFHLDLW
FYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHL
VGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPG
PALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRK
KYPGVIYVPELWAFYTLHVSSRH*

Gene Symbol:CLN6
Accession:NM_001411068
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 331
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKKHGSVSADEAARTAPFHLDLW
FYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHL
VGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPG
PALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRK
KYPGVIYVPELWAFYTLHVSSRH*

Gene Symbol:CLN6
Accession:NM_017882
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPS
VGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPE
TLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA
MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPELWAFYTLHVSSRH*
Variant Samples
Additional References at PubMed
PMID:12815591   PMID:19135028   PMID:21990111   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000665887 CLINVAR
  RCV001855448 CLINVAR
  RCV002485526 CLINVAR
dbSNP (RS) rs758921701 CLINVAR
MedGen C0027877 CLINVAR
  C5551375 CLINVAR
NCBI Gene CLN6 CLINVAR
OMIM 204300 CLINVAR
  601780 CLINVAR
  606725 CLINVAR
SNOMED CT 42012007 CLINVAR