RGD:11656469 Rat Genome Database

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Variant: RGD:11656469 -  Homo sapiens

RGD ID: 11656469
RS ID: rs749351351
ClinVar ID: CV328160
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM216  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 61,165,436
GRCh38 11 61,397,964
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.10605T>C
NC_000011.10:g.61397964T>C
NC_000011.9:g.61165436T>C
NP_001167461.1:p.Ala140=
More... 		04/14/2020 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance antenatal 1-9 / 100 000 Cerebellooculorenal syndrome 2; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Joubert-Boltshauser syndrome; MECKEL-GRUBER SYNDROME, TYPE 2; MKS2-Related Meckel Syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM216
Accession:NM_001173990
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSRI*

Gene Symbol:TMEM216
Accession:NM_001330285
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSRI*

Gene Symbol:TMEM216
Accession:NM_016499
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSSMDRI*

Gene Symbol:TMEM216
Accession:NM_001173991
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSSMDRI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000333645 CLINVAR
  RCV000388251 CLINVAR
  RCV000731810 CLINVAR
  RCV001093992 CLINVAR
dbSNP (RS) rs749351351 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