rs886063176 Rat Genome Database

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Variant: rs886063176 -  Homo sapiens

RGD ID: 11646292
RS ID: rs886063176
ClinVar ID: CV315375
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM67  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 94,828,980
GRCh38 8 93,816,752
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
LRG_688t1:c.*300G>A
LRG_688t2:c.*300G>A
NM_001142301.1:c.*300G>A
LRG_688:g.66909G>A
More... 		01/12/2018 3 prime utr variant uncertain significance antenatal 1-9 / 100 000 MECKEL-GRUBER SYNDROME, TYPE 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM67
Accession:NM_153704
Location:3UTRS;EXON

Gene Symbol:TMEM67
Accession:NM_001142301
Location:3UTRS;EXON

Gene Symbol:TMEM67
Accession:XM_047422410
Location:3UTRS;EXON

Gene Symbol:TMEM67
Accession:XM_011517363
Location:3UTRS;EXON

Gene Symbol:TMEM67
Accession:XM_047422409
Location:3UTRS;EXON

Gene Symbol:TMEM67
Accession:XM_006716686
Location:3UTRS;EXON

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

Gene Symbol:TMEM67
Accession:XR_007060762
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:XR_428387
Location:INTRON;NON-CODING

Gene Symbol:TMEM67
Accession:NR_024522
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 Information

Database Acc Id Source(s)
ClinVar RCV000270141 CLINVAR
  RCV000325228 CLINVAR
  RCV000389176 CLINVAR
dbSNP (RS) rs886063176 CLINVAR
MedGen C1846357 CLINVAR
  C1853153 CLINVAR
  C3150796 CLINVAR
NCBI Gene TMEM67 CLINVAR
OMIM 607361 CLINVAR
  609884 CLINVAR
  610688 CLINVAR
  613550 CLINVAR