RGD:11626531 Rat Genome Database

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Variant: RGD:11626531 -  Homo sapiens

RGD ID: 11626531
RS ID: rs370964036
ClinVar ID: CV348068
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRMU  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 46,731,618
GRCh38 22 46,335,721
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
NG_012173.1:g.5321G>A
NC_000022.11:g.46335721G>A
NC_000022.10:g.46731618G>A
NM_001282782.2:c.-279G>A
More... 		02/19/2018 5 prime utr variant benign|likely benign|uncertain significance infancy <1 / 1 000 000 AllHighlyPenetrant; Liver failure acute infantile; LIVER FAILURE, INFANTILE, TRANSIENT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRMU
Accession:NM_001282784
Location:5UTRS;EXON

Gene Symbol:TRMU
Accession:XM_011530273
Location:5UTRS;EXON

Gene Symbol:TRMU
Accession:NM_001282783
Location:5UTRS;EXON

Gene Symbol:TRMU
Accession:NM_018006
Location:5UTRS;EXON

Gene Symbol:TRMU
Accession:NM_001282785
Location:5UTRS;EXON

Gene Symbol:TRMU
Accession:NM_001282782
Location:5UTRS;EXON

Gene Symbol:TRMU
Accession:XM_011530272
Location:5UTRS;EXON

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

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

Gene Symbol:TRMU
Accession:XM_047441445
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441446
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441444
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265076 CLINVAR
  RCV000604435 CLINVAR
dbSNP (RS) rs370964036 CLINVAR
MedGen C3278664 CLINVAR
  CN169374 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 610230 CLINVAR
  613070 CLINVAR