RGD:11653462 Rat Genome Database

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Variant: RGD:11653462 -  Homo sapiens

RGD ID: 11653462
RS ID: rs886048414
ClinVar ID: CV327082
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM216  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 61,166,083
GRCh38 11 61,398,611
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.11253G>A
NC_000011.10:g.61398611G>A
NC_000011.9:g.61166083G>A
NM_001173990.2:c.*335G>A
More... 		06/14/2016 3 prime utr variant uncertain significance antenatal 1-9 / 100 000 Cerebellooculorenal syndrome 2; MECKEL-GRUBER SYNDROME, TYPE 2; MKS2-Related Meckel Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM216
Accession:NM_016499
Location:3UTRS;EXON

Gene Symbol:TMEM216
Accession:NM_001173990
Location:3UTRS;EXON

Gene Symbol:TMEM216
Accession:NM_001173991
Location:3UTRS;EXON

Gene Symbol:TMEM216
Accession:NM_001330285
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000310946 CLINVAR
  RCV000367994 CLINVAR
dbSNP (RS) rs886048414 CLINVAR
MedGen C1842577 CLINVAR
  C1864148 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 603194 CLINVAR
  608091 CLINVAR
  613277 CLINVAR