RGD:12900133 Rat Genome Database

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Variant: RGD:12900133 -  Homo sapiens

RGD ID: 12900133
RS ID: rs1064794519
ClinVar ID: CV407353
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN8  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 1,719,516
GRCh38 8 1,771,350
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_691t1:c.296A>G
LRG_691:g.20573A>G
NG_008656.2:g.20573A>G
NC_000008.11:g.1771350A>G
More... 		02/03/2016 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CLN8
Accession:NM_018941
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGRQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266022
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGRQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266023
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGRQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266021
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGRQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534747
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGRQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKETGSLERKNKHNKSLLPSGSRWVDDISPSKVHCSVNSTDCSCITTMDTSRVSDTVLAPG
NSRRNLCSWCPLRLAPSGTRWGV*

Gene Symbol:CLN8
Accession:XM_011534745
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGRQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534746
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGRQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_047421512
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGRQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_047421513
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGRQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKETGSLERKNKHNKSLLPSGSRWVDDISPSKVHCSVNSTDCSCITTMDTSRVSDTVLAPG
NSRRNLCSWCPLRLAPSGTRWGV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000481732 CLINVAR
dbSNP (RS) rs1064794519 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CLN8 CLINVAR
OMIM 607837 CLINVAR