RGD:11629616 Rat Genome Database

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Variant: RGD:11629616 -  Homo sapiens

RGD ID: 11629616
RS ID: rs373346869
ClinVar ID: CV351783
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRMU  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 46,751,494
GRCh38 22 46,355,597
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_001282782.2:c.676+9C>T
NM_018006.4:c.1018+9C>T
NG_012173.1:g.25197C>T
NC_000022.11:g.46355597C>T
More... 		11/23/2020 intron variant likely benign|uncertain significance infancy <1 / 1 000 000 Liver failure acute infantile; LIVER FAILURE, INFANTILE, TRANSIENT; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRMU
Accession:XM_011530273
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441445
Location:INTRON

Gene Symbol:TRMU
Accession:XM_011530272
Location:INTRON

Gene Symbol:TRMU
Accession:NM_001282785
Location:INTRON

Gene Symbol:TRMU
Accession:NM_001282783
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441446
Location:INTRON

Gene Symbol:TRMU
Accession:NM_001282782
Location:INTRON

Gene Symbol:TRMU
Accession:NM_018006
Location:INTRON

Gene Symbol:TRMU
Accession:NM_001282784
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441444
Location:INTRON

Gene Symbol:TRMU
Accession:NR_104240
Location:INTRON;NON-CODING

Gene Symbol:TRMU
Accession:NR_104241
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000328968 CLINVAR
  RCV000841374 CLINVAR
dbSNP (RS) rs373346869 CLINVAR
MedGen C3278664 CLINVAR
  C3661900 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 610230 CLINVAR
  613070 CLINVAR