RGD:28869206 Rat Genome Database

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Variant: RGD:28869206 -  Homo sapiens

RGD ID: 28869206
RS ID: rs776214918
ClinVar ID: CV891435
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRMU  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 46,752,931
GRCh38 22 46,357,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282782.2:c.*28G>A
NM_001282783.2:c.*28G>A
NM_018006.5:c.*28G>A
NC_000022.11:g.46357034G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Liver failure acute infantile; LIVER FAILURE, INFANTILE, TRANSIENT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRMU
Accession:XM_047441445
Location:3UTRS;EXON

Gene Symbol:TRMU
Accession:NM_001282785
Location:3UTRS;EXON

Gene Symbol:TRMU
Accession:NM_001282783
Location:3UTRS;EXON

Gene Symbol:TRMU
Accession:NM_001282782
Location:3UTRS;EXON

Gene Symbol:TRMU
Accession:XM_047441444
Location:3UTRS;EXON

Gene Symbol:TRMU
Accession:XM_047441446
Location:3UTRS;EXON

Gene Symbol:TRMU
Accession:NM_001282784
Location:3UTRS;EXON

Gene Symbol:TRMU
Accession:XM_011530272
Location:3UTRS;EXON

Gene Symbol:TRMU
Accession:XM_011530273
Location:3UTRS;EXON

Gene Symbol:TRMU
Accession:NM_018006
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001144831 CLINVAR
dbSNP (RS) rs776214918 CLINVAR
MedGen C3278664 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 610230 CLINVAR
  613070 CLINVAR