RGD:13788963 Rat Genome Database

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Variant: RGD:13788963 -  Homo sapiens

RGD ID: 13788963
RS ID: rs554042394
ClinVar ID: CV544700
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN8  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 1,719,618
GRCh38 8 1,771,452
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018941.4:c.398T>A
NP_061764.2:p.Leu133Ter
LRG_691t1:c.398T>A
LRG_691:g.20675T>A
More... 		06/19/2020 nonsense pathogenic|likely pathogenic Ceroid storage disease; CLN8-Related Neuronal Ceroid-Lipofuscinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN8
Accession:XM_005266023
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFD*FLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534747
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFD*FLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKETGSLERKNKHNKSLLPSGSRWVDDISPSKVHCSVNSTDCSCITTMDTSRVSDTVLAPG
NSRRNLCSWCPLRLAPSGTRWGV*

Gene Symbol:CLN8
Accession:XM_005266021
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFD*FLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534745
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFD*FLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266022
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFD*FLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:NM_018941
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFD*FLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_047421512
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFD*FLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534746
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFD*FLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_047421513
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFD*FLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKETGSLERKNKHNKSLLPSGSRWVDDISPSKVHCSVNSTDCSCITTMDTSRVSDTVLAPG
NSRRNLCSWCPLRLAPSGTRWGV*
Variant Samples
Additional References at PubMed
PMID:15024724   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000674248 CLINVAR
  RCV001381243 CLINVAR
dbSNP (RS) rs554042394 CLINVAR
MedGen C0027877 CLINVAR
  C1838570 CLINVAR
NCBI Gene CLN8 CLINVAR
OMIM 600143 CLINVAR
  607837 CLINVAR
SNOMED CT 42012007 CLINVAR