RGD:8574330 Rat Genome Database

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Variant: RGD:8574330 -  Homo sapiens

RGD ID: 8574330
RS ID: rs587779411
ClinVar ID: CV106601
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN8  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 1,728,664
GRCh38 8 1,780,498
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008656.2:g.29721C>G
NC_000008.11:g.1780498C>G
NC_000008.10:g.1728664C>G
NP_061764.2:p.Asn264Lys
More... 		11/17/2021 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity childhood 1-9 / 1 000 000 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_005266022
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWKFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:NM_018941
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWKFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266021
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWKFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266023
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWKFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534745
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWKFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534746
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWKFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_047421512
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWKFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_047421513
Location:INTRON

Gene Symbol:CLN8
Accession:XM_011534747
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24767253   PMID:25741868   PMID:25976102   PMID:28492532   PMID:30741402  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000087102 CLINVAR
  RCV000988030 CLINVAR
dbSNP (RS) rs587779411 CLINVAR
MedGen C0027877 CLINVAR
  C1838570 CLINVAR
NCBI Gene CLN8 CLINVAR
OMIM 600143 CLINVAR
  607837 CLINVAR
SNOMED CT 42012007 CLINVAR