RGD:126908083 Rat Genome Database

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Variant: RGD:126908083 -  Homo sapiens

RGD ID: 126908083
RS ID: rs2141714404
ClinVar ID: CV1049554
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 28,498,816
GRCh38 16 28,487,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286110.2:c.259C>G
NM_001286104.2:c.349C>G
LRG_689p1:p.Leu141Val
NP_001273033.1:p.Leu117Val
More... 		09/25/2020 missense variant uncertain significance Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN3
Accession:NM_001042432
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPT
PIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVVVAFSHSVGTSLCGVVFASI
SSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG
GEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYR
WYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALET
SDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286104
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHAVLLAD
ILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVVVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWW
SSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPG
SSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRF
TWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSG
LLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286109
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAAHDILSHKRTSGNQSHAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVVVAFSHSVGTSLCGVVFA
SISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQD
PGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQ
YRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIAL
ETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286110
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAAHDILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGIC
AAGSFVVVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLL
SMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFA
EYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLV
FLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_000086
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPT
PIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVVVAFSHSVGTSLCGVVFASI
SSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG
GEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYR
WYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALET
SDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286105
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTQAQRRSPTTAHHDLTATLSLRLPRVLVSGICAAGSFVVVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAV
ISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPE
SKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCC
RIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGI
SLSGLLALPLHDFLCQLS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001367569 CLINVAR
dbSNP (RS) rs2141714404 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN3 CLINVAR
OMIM 607042 CLINVAR
SNOMED CT 42012007 CLINVAR