RGD:127281232 Rat Genome Database

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Variant: RGD:127281232 -  Homo sapiens

RGD ID: 127281232
RS ID: rs373634556
ClinVar ID: CV1075604
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM67  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 94,808,234
GRCh38 8 93,796,006
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_688t2:c.1617+19G>T
NM_001142301.1:c.1617+19G>T
NM_153704.6:c.1860+19G>T
LRG_688:g.46163G>T
More... 		09/11/2020 intron variant likely benign Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Meckel-Gruber syndrome
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_001142301
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_011517363
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_047422409
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_006716686
Location:INTRON

Gene Symbol:TMEM67
Accession:NM_153704
Location:INTRON

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

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001410295 CLINVAR
dbSNP (RS) rs373634556 CLINVAR
MedGen C0431399 CLINVAR
NCBI Gene TMEM67 CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  609884 CLINVAR
SNOMED CT 253175003 CLINVAR