RGD:15097748 Rat Genome Database

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Variant: RGD:15097748 -  Homo sapiens

RGD ID: 15097748
RS ID: rs528921796
ClinVar ID: CV687794
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM216  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 61,165,340
GRCh38 11 61,397,868
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016499.6:c.141G>A
LRG_698t1:c.324G>A
NG_032976.1:g.10509G>A
NC_000011.10:g.61397868G>A
More... 		02/13/2020 synonymous variant likely benign|uncertain significance Cerebellooculorenal syndrome 2; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Joubert-Boltshauser syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM216
Accession:NM_016499
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSSMDRI*

Gene Symbol:TMEM216
Accession:NM_001330285
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSRI*

Gene Symbol:TMEM216
Accession:NM_001173990
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSRI*

Gene Symbol:TMEM216
Accession:NM_001173991
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSSMDRI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000869527 CLINVAR
  RCV001276407 CLINVAR
dbSNP (RS) rs528921796 CLINVAR
MedGen C0431399 CLINVAR
  C1842577 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 213300 CLINVAR
  608091 CLINVAR
  613277 CLINVAR
SNOMED CT 253175003 CLINVAR