RGD:11547916 Rat Genome Database

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Variant: RGD:11547916 -  Homo sapiens

RGD ID: 11547916
RS ID: rs73694924
ClinVar ID: CV253200
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM67  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 94,776,217
GRCh38 8 93,763,989
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_688t2:c.263+48G>A
LRG_688t1:c.506+48G>A
NM_001142301.1:c.263+48G>A
LRG_688:g.14146G>A
More... 		06/16/2018 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:TMEM67
Accession:XM_047422409
Location:5UTRS;INTRON

Gene Symbol:TMEM67
Accession:XM_011517363
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_006716686
Location:INTRON

Gene Symbol:TMEM67
Accession:NM_001142301
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_047422410
Location:INTRON

Gene Symbol:TMEM67
Accession:NM_153704
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:NR_024522
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_007060763
Location:INTRON;NON-CODING

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248388 CLINVAR
  RCV000835279 CLINVAR
dbSNP (RS) rs73694924 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TMEM67 CLINVAR
OMIM 609884 CLINVAR