RGD:151795843 Rat Genome Database

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Variant: RGD:151795843 -  Homo sapiens

RGD ID: 151795843
RS ID: rs201090501
ClinVar ID: CV1421377
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 28,493,854
GRCh38 16 28,482,533
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.688T>C
NM_001286104.2:c.778T>C
NM_000086.2:c.850T>C
NM_001042432.2:c.850T>C
More... 		09/17/2021 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: Y to H (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPT
PIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASI
SSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG
GEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWHIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYR
WYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALET
SDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_000086
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPT
PIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASI
SSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG
GEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWHIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYR
WYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALET
SDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286109
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAAHDILSHKRTSGNQSHAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFA
SISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQD
PGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWHIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQ
YRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIAL
ETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286104
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHAVLLAD
ILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWW
SSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPG
SSSSLSLRERWTVFKGLLWHIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRF
TWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSG
LLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286105
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTQAQRRSPTTAHHDLTATLSLRLPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAV
ISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPE
SKPGSSSSLSLRERWTVFKGLLWHIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCC
RIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGI
SLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286110
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAAHDILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGIC
AAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLL
SMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWHIVPLVVVYFA
EYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLV
FLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001917250 CLINVAR
dbSNP (RS) rs201090501 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN3 CLINVAR
OMIM 607042 CLINVAR
SNOMED CT 42012007 CLINVAR