RGD:11552044 Rat Genome Database

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Variant: RGD:11552044 -  Homo sapiens

RGD ID: 11552044
RS ID: rs147953784
ClinVar ID: CV254217
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127821163  TMEM216  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 61,160,686
GRCh38 11 61,393,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_698t1:c.35-17C>T
NM_001330285.2:c.-149-17C>T
NM_001173991.2:c.35-17C>T
NG_032976.1:g.5855C>T
More... 		05/08/2017 intron variant benign|likely benign AllHighlyPenetrant; 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_016499
Location:5UTRS;INTRON

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

Gene Symbol:TMEM216
Accession:NM_001173991
Location:INTRON

Gene Symbol:TMEM216
Accession:NM_001173990
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000253857 CLINVAR
  RCV000514311 CLINVAR
  RCV001514461 CLINVAR
  RCV001538028 CLINVAR
  RCV001538029 CLINVAR
dbSNP (RS) rs147953784 CLINVAR
MedGen C0431399 CLINVAR
  C1842577 CLINVAR
  C1864148 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 213300 CLINVAR
  603194 CLINVAR
  608091 CLINVAR
  613277 CLINVAR
SNOMED CT 253175003 CLINVAR