RGD:8617116 Rat Genome Database

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Variant: RGD:8617116 -  Homo sapiens

RGD ID: 8617116
RS ID: rs11230683
ClinVar ID: CV71023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM216  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 61,165,269
GRCh38 11 61,397,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_032976.1:g.10438C>T
NC_000011.10:g.61397797C>T
NC_000011.9:g.61165269C>T
NM_001173991.1:c.253C>T
More... 		11/16/2018 nonsense|stop-gain pathogenic|likely pathogenic antenatal|neonatal/infancy 1-9 / 100 000|<1 / 1 000 000 Cerebellooculorenal syndrome 2; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Joubert-Boltshauser syndrome; Meckel syndrome, type 2; MECKEL-GRUBER SYNDROME, TYPE 2; MKS2-Related Meckel Syndrome; none provided; TMEM216-related condition; TMEM216-Related Disorders
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM216
Accession:NM_001173991
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQ*KMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSSMDRI*

Gene Symbol:TMEM216
Accession:NM_001330285
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQ*KMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSRI*

Gene Symbol:TMEM216
Accession:NM_001173990
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQ*KMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSRI*

Gene Symbol:TMEM216
Accession:NM_016499
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQ*KMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSSMDRI*
Variant Samples
Additional References at PubMed
PMID:20512146   PMID:23351400   PMID:25741868   PMID:26092869   PMID:28492532   PMID:28497568  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000049797 CLINVAR
  RCV000201650 CLINVAR
  RCV000760437 CLINVAR
  RCV000779067 CLINVAR
  RCV000822982 CLINVAR
  RCV001787335 CLINVAR
dbSNP (RS) rs11230683 CLINVAR
MedGen C0431399 CLINVAR
  C1842577 CLINVAR
  C1864148 CLINVAR
  C3661900 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 213300 CLINVAR
  603194 CLINVAR
  608091 CLINVAR
  613277 CLINVAR
SNOMED CT 253175003 CLINVAR