RGD:404999711 Rat Genome Database

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Variant: RGD:404999711 -  Homo sapiens

RGD ID: 404999711
ClinVar ID: CV3071986
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127821163  TMEM216  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 61,160,109
GRCh38 11 61,392,637
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_698t1:c.6G>A
LRG_698t2:c.6G>A
NM_001330285.2:c.-192G>A
NM_016499.6:c.-192G>A
More... 		09/04/2023 5 prime utr variant likely benign 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:5UTRS;EXON

Gene Symbol:TMEM216
Accession:NM_001330285
Location:5UTRS;EXON

Gene Symbol:TMEM216
Accession:NM_001173991
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSSMDRI*

Gene Symbol:TMEM216
Accession:NM_001173990
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSRI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003598804 CLINVAR
MedGen C0431399 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 213300 CLINVAR
  613277 CLINVAR
SNOMED CT 253175003 CLINVAR