RGD:402521493 Rat Genome Database

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Variant: RGD:402521493 -  Homo sapiens

RGD ID: 402521493
ClinVar ID: CV2879535
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM216  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 61,161,422
GRCh38 11 61,393,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_698p1:p.Gly68Val
LRG_698p2:p.Gly68Val
NP_001167461.1:p.Gly68Val
NP_001167462.1:p.Gly68Val
More... 		01/25/2024 missense variant uncertain significance 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_001173991
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLVIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSSMDRI*

Gene Symbol:TMEM216
Accession:NM_001330285
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLVIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSRI*

Gene Symbol:TMEM216
Accession:NM_016499
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLVIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSSMDRI*

Gene Symbol:TMEM216
Accession:NM_001173990
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLVIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSRI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003496488 CLINVAR
MedGen C0431399 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 213300 CLINVAR
  613277 CLINVAR
SNOMED CT 253175003 CLINVAR