RGD:12888440 Rat Genome Database

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Variant: RGD:12888440 -  Homo sapiens

RGD ID: 12888440
RS ID: rs748486939
ClinVar ID: CV398683
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM216  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 61,165,421
GRCh38 11 61,397,949
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.10590G>A
NC_000011.10:g.61397949G>A
NC_000011.9:g.61165421G>A
NP_001167461.1:p.Glu135=
More... 		09/16/2020 synonymous variant likely benign|uncertain significance antenatal 1-9 / 100 000 Cerebellooculorenal syndrome 2; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Joubert-Boltshauser syndrome; TMEM216-related condition; TMEM216-Related Disorders
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM216
Accession:NM_001330285
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSRI*

Gene Symbol:TMEM216
Accession:NM_001173990
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSRI*

Gene Symbol:TMEM216
Accession:NM_016499
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSSMDRI*

Gene Symbol:TMEM216
Accession:NM_001173991
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSSMDRI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000470905 CLINVAR
  RCV001828464 CLINVAR
  RCV004533179 CLINVAR
dbSNP (RS) rs748486939 CLINVAR
MedGen C0431399 CLINVAR
  C1842577 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 213300 CLINVAR
  608091 CLINVAR
  613277 CLINVAR
SNOMED CT 253175003 CLINVAR