RGD:127245742 Rat Genome Database

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Variant: RGD:127245742 -  Homo sapiens

RGD ID: 127245742
RS ID: rs2141156267
ClinVar ID: CV1103070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN6  LOC129663633  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 68,521,896
GRCh38 15 68,229,558
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017882.3:c.27C>T
NC_000015.10:g.68229558G>A
NC_000015.9:g.68521896G>A
LRG_832p1:p.His9=
More... 		07/12/2020 synonymous variant likely benign Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN6
Accession:NM_017882
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPS
VGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPE
TLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA
MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPWAFYTLHVSSRH*

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CLN6
Accession:NM_001411068
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001435266 CLINVAR
dbSNP (RS) rs2141156267 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN6 CLINVAR
OMIM 606725 CLINVAR
SNOMED CT 42012007 CLINVAR