RGD:26905030 Rat Genome Database

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Variant: RGD:26905030 -  Homo sapiens

RGD ID: 26905030
RS ID: rs1801297484
ClinVar ID: CV834531
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 1,719,531
GRCh38 8 1,771,365
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_691t1:c.311G>A
NM_018941.4:c.311G>A
LRG_691:g.20588G>A
NG_008656.2:g.20588G>A
More... 		11/29/2019 nonsense pathogenic Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN8
Accession:NM_018941
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWC*FHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266021
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWC*FHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534746
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWC*FHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534747
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWC*FHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKETGSLERKNKHNKSLLPSGSRWVDDISPSKVHCSVNSTDCSCITTMDTSRVSDTVLAPG
NSRRNLCSWCPLRLAPSGTRWGV*

Gene Symbol:CLN8
Accession:XM_011534745
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWC*FHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266023
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWC*FHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_047421512
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWC*FHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266022
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWC*FHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_047421513
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWC*FHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKETGSLERKNKHNKSLLPSGSRWVDDISPSKVHCSVNSTDCSCITTMDTSRVSDTVLAPG
NSRRNLCSWCPLRLAPSGTRWGV*
Variant Samples
Additional References at PubMed
PMID:15024724   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001057047 CLINVAR
dbSNP (RS) rs1801297484 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN8 CLINVAR
OMIM 607837 CLINVAR
SNOMED CT 42012007 CLINVAR