RGD:15129876 Rat Genome Database

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Variant: RGD:15129876 -  Homo sapiens

RGD ID: 15129876
RS ID: rs532418578
ClinVar ID: CV685245
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM67  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 94,821,062
GRCh38 8 93,808,834
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.10:g.94821062T>C
NM_001142301.1:c.2197-6T>C
NM_153704.6:c.2440-6T>C
NG_009190.1:g.58991T>C
More... 		12/20/2021 intron variant benign|likely benign Bardet-Biedl syndrome 14; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert syndrome 6; Joubert-Boltshauser syndrome; Meckel syndrome, type 3; Meckel-Gruber syndrome; MECKEL-GRUBER SYNDROME, TYPE 3; Nephronophthisis 11; Retinitis pigmentosa syndrome; Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia; RHYNS syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM67
Accession:XM_047422409
Location:INTRON

Gene Symbol:TMEM67
Accession:NM_153704
Location:INTRON

Gene Symbol:TMEM67
Accession:NM_001142301
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_047422410
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_006716686
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_011517363
Location:INTRON

Gene Symbol:TMEM67
Accession:XR_928360
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:NR_024522
Location:INTRON;NON-CODING

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_428387
Location:INTRON;NON-CODING

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000863325 CLINVAR
  RCV002487895 CLINVAR
  RCV003908190 CLINVAR
dbSNP (RS) rs532418578 CLINVAR
MedGen C0431399 CLINVAR
  C5435651 CLINVAR
NCBI Gene TMEM67 CLINVAR
OMIM 213300 CLINVAR
  216360 CLINVAR
  249000 CLINVAR
  602152 CLINVAR
  607361 CLINVAR
  609884 CLINVAR
  610688 CLINVAR
  613550 CLINVAR
  615991 CLINVAR
SNOMED CT 253175003 CLINVAR