RGD:8556154 Rat Genome Database

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Variant: RGD:8556154 -  Homo sapiens

RGD ID: 8556154
RS ID: rs386834187
ClinVar ID: CV16409
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM67  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 94,803,548
GRCh38 8 93,791,320
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
NM_001142301.1:c.1332+1G>A
NG_009190.1:g.41477G>A
NC_000008.11:g.93791320G>A
NC_000008.10:g.94803548G>A
More... 		03/20/2015 splice donor variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters antenatal|neonatal/infancy 1-9 / 100 000|<1 / 1 000 000 MECKEL-GRUBER SYNDROME, TYPE 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM67
Accession:XM_047422410
Location:INTRON

Gene Symbol:TMEM67
Accession:NM_153704
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_047422409
Location:INTRON

Gene Symbol:TMEM67
Accession:NM_001142301
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_006716686
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_011517363
Location:INTRON

Gene Symbol:TMEM67
Accession:XR_001745619
Location:INTRON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_007060760
Location:INTRON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_007060763
Location:INTRON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_007060762
Location:INTRON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_428387
Location:INTRON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_928360
Location:INTRON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_007060761
Location:INTRON;NON-CODING

Gene Symbol:TMEM67
Accession:NR_024522
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16415887  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001435 CLINVAR
dbSNP (RS) rs386834187 CLINVAR
MedGen C1846357 CLINVAR
NCBI Gene TMEM67 CLINVAR
OMIM 607361 CLINVAR
  609884 CLINVAR
OMIM Allele 609884.0005 CLINVAR