RGD:8690541 Rat Genome Database

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Variant: RGD:8690541 -  Homo sapiens

RGD ID: 8690541
RS ID: rs148846795
ClinVar ID: CV140492
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 28,497,916
GRCh38 16 28,486,595
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000086.2:c.516C>T
NG_008654.2:g.10708C>T
NC_000016.10:g.28486595G>A
NC_000016.9:g.28497916G>A
More... 		08/10/2021 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Ceroid storage disease; CLN3 Disease; CLN3-Related Neuronal Ceroid-Lipofuscinosis; none provided; Spielmeyer Sjogren 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 L (synonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPT
PIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASI
SSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG
GEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYR
WYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALET
SDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286109
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAAHDILSHKRTSGNQSHAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFA
SISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQD
PGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQ
YRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIAL
ETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286110
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAAHDILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGIC
AAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLL
SMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFA
EYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLV
FLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286104
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHAVLLAD
ILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWW
SSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPG
SSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRF
TWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSG
LLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_000086
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPT
PIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASI
SSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG
GEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYR
WYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALET
SDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:CLN3
Accession:NM_001286105
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTQAQRRSPTTAHHDLTATLSLRLPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAV
ISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPE
SKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCC
RIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGI
SLSGLLALPLHDFLCQLS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124325 CLINVAR
  RCV000528208 CLINVAR
  RCV001119060 CLINVAR
  RCV001701675 CLINVAR
  RCV002336272 CLINVAR
dbSNP (RS) rs148846795 CLINVAR
MedGen C0027877 CLINVAR
  C0751383 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CLN3 CLINVAR
OMIM 204200 CLINVAR
  607042 CLINVAR
SNOMED CT 42012007 CLINVAR