RGD:155745228 Rat Genome Database

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Variant: RGD:155745228 -  Homo sapiens

RGD ID: 155745228
ClinVar ID: CV1771546
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM216  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 61,165,356
GRCh38 11 61,397,884
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_057583.2:p.Leu53Ile
LRG_698t1:c.340C>A
LRG_698t2:c.340C>A
NM_001330285.2:c.157C>A
More... 		08/22/2022 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_016499
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVIRLEAIMNGILLFFCGSELLLEVLTLAA
FSSMDRI*

Gene Symbol:TMEM216
Accession:NM_001173990
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVIRLEAIMNGILLFFCGSELLLEVLTLAAFSRI*

Gene Symbol:TMEM216
Accession:NM_001173991
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVIRLEAIMNGILLFFCGSELLLEVLTLAAFSSMDRI*

Gene Symbol:TMEM216
Accession:NM_001330285
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVIRLEAIMNGILLFFCGSELLLEVLTLAA
FSRI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002303327 CLINVAR
MedGen C0431399 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 213300 CLINVAR
  613277 CLINVAR
SNOMED CT 253175003 CLINVAR