RGD:14738201 Rat Genome Database

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Variant: RGD:14738201 -  Homo sapiens

RGD ID: 14738201
RS ID: rs191827422
ClinVar ID: CV670938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UBA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 47,062,705
GRCh38 X 47,203,306
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003334.4:c.1419+92C>T
NM_153280.3:c.1419+92C>T
NG_009161.1:g.17507C>T
NG_021353.1:g.3459C>T
More... 		06/18/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:UBA1
Accession:XM_047442422
Location:INTRON

Gene Symbol:UBA1
Accession:XM_005272649
Location:INTRON

Gene Symbol:UBA1
Accession:XM_017029778
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442425
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442420
Location:INTRON

Gene Symbol:UBA1
Accession:XM_011543954
Location:INTRON

Gene Symbol:UBA1
Accession:XM_017029777
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442423
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442424
Location:INTRON

Gene Symbol:UBA1
Accession:NM_003334
Location:INTRON

Gene Symbol:UBA1
Accession:XM_017029780
Location:INTRON

Gene Symbol:UBA1
Accession:NM_153280
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442421
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000839285 CLINVAR
dbSNP (RS) rs191827422 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene UBA1 CLINVAR
OMIM 314370 CLINVAR