RGD:8556159 Rat Genome Database

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Variant: RGD:8556159 -  Homo sapiens

RGD ID: 8556159
RS ID: rs758948621
ClinVar ID: CV16414
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM67  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 94,809,557
GRCh38 8 93,797,329
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.1718-2A>C
NG_009190.1:g.47486A>C
NC_000008.11:g.93797329A>C
NC_000008.10:g.94809557A>C
More...
03/20/2015 splice acceptor variant pathogenic antenatal|neonatal/infancy 1-9 / 100 000|<1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM67
Accession:NM_153704
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:XM_047422410
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_047422409
Location:INTRON

Gene Symbol:TMEM67
Accession:NR_024522
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_001745619
Location:INTRON;NON-CODING

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:19058225   PMID:26092869  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001441 CLINVAR
  RCV000201576 CLINVAR
dbSNP (RS) rs758948621 CLINVAR
MedGen C1853153 CLINVAR
  C5435651 CLINVAR
NCBI Gene TMEM67 CLINVAR
OMIM 216360 CLINVAR
  609884 CLINVAR
  610688 CLINVAR
OMIM Allele 609884.0017 CLINVAR