rs2135189980 Rat Genome Database

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Variant: rs2135189980 -  Homo sapiens

RGD ID: 151709819
RS ID: rs2135189980
ClinVar ID: CV1475678
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127821163  TMEM216  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 61,160,702
GRCh38 11 61,393,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001173990.3:c.35-1G>A
NM_001173991.3:c.35-1G>A
LRG_698:g.5871G>A
NG_032976.1:g.5871G>A
More... 		05/22/2023 splice acceptor variant likely pathogenic 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_001330285
Location:5UTRS;INTRON

Gene Symbol:TMEM216
Accession:NM_016499
Location:5UTRS;INTRON

Gene Symbol:TMEM216
Accession:NM_001173990
Location:INTRON

Gene Symbol:TMEM216
Accession:NM_001173991
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20512146   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001995030 CLINVAR
dbSNP (RS) rs2135189980 CLINVAR
MedGen C0431399 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 213300 CLINVAR
  613277 CLINVAR
SNOMED CT 253175003 CLINVAR