RGD:402464588 Rat Genome Database

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Variant: RGD:402464588 -  Homo sapiens

RGD ID: 402464588
ClinVar ID: CV2962288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105373194  UBA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 47,065,527
GRCh38 X 47,206,128
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.1741+15G>A
NM_153280.3:c.1741+15G>A
NG_009161.1:g.20329G>A
NG_021353.1:g.6281G>A
More... 		07/18/2023 intron variant uncertain significance AMC, distal, X-linked; Arthrogryposis multiplex congenita, distal, X-linked; ARTHROGRYPOSIS, X-LINKED, TYPE I; Spinal muscular atrophy, X-linked 2; Spinal Muscular Atrophy, X-Linked Infantile; SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UBA1
Accession:XM_047442423
Location:INTRON

Gene Symbol:UBA1
Accession:XM_005272649
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442424
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442421
Location:INTRON

Gene Symbol:UBA1
Accession:XM_017029777
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442425
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442422
Location:INTRON

Gene Symbol:UBA1
Accession:NM_153280
Location:INTRON

Gene Symbol:UBA1
Accession:NM_003334
Location:INTRON

Gene Symbol:UBA1
Accession:XM_017029780
Location:INTRON

Gene Symbol:UBA1
Accession:XM_011543954
Location:INTRON

Gene Symbol:UBA1
Accession:XM_017029778
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442420
Location:INTRON

Gene Symbol:LOC105373194
Accession:XR_949047
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003622440 CLINVAR
MedGen C1844934 CLINVAR
NCBI Gene UBA1 CLINVAR
OMIM 301830 CLINVAR
  314370 CLINVAR