RGD:401796508 Rat Genome Database

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Variant: RGD:401796508 -  Homo sapiens

RGD ID: 401796508
ClinVar ID: CV2740673
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATXN7L3-AS1  UBTF  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,293,017
GRCh38 17 44,215,649
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001076683.2:c.474+5G>T
NM_001076684.3:c.474+5G>T
NC_000017.11:g.44215649C>A
NC_000017.10:g.42293017C>A
More... 		02/10/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:UBTF
Accession:NM_001076683
Location:INTRON

Gene Symbol:UBTF
Accession:NM_001076684
Location:INTRON

Gene Symbol:UBTF
Accession:NM_014233
Location:INTRON

Gene Symbol:ATXN7L3-AS1
Accession:NR_184071
Location:INTRON;NON-CODING

Gene Symbol:ATXN7L3-AS1
Accession:NR_184072
Location:INTRON;NON-CODING

Gene Symbol:UBTF
Accession:NR_045058
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003321343 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ATXN7L3-AS1 CLINVAR
  UBTF CLINVAR
OMIM 600673 CLINVAR