RGD:11591436 Rat Genome Database

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Variant: RGD:11591436 -  Homo sapiens

RGD ID: 11591436
RS ID: rs76598053
ClinVar ID: CV288582
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SP110  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 231,033,636
GRCh38 2 230,168,920
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
LRG_109:g.56192A>T
NG_008295.1:g.56192A>T
NC_000002.12:g.230168920T>A
NC_000002.11:g.231033636T>A
More... 		01/12/2018 3 prime utr variant uncertain significance infancy <1 / 1 000 000 Hepatic Veno-occlusive Disease with Immunodeficiency; Hepatic venoocclusive disease with immunodeficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SP110
Accession:NM_001378446
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:NM_001378445
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:NM_080424
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:XM_024452850
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:XM_047444121
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:XM_011511092
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:NM_001378443
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:XM_047444120
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:NM_004509
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:XM_017003968
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:NM_001378442
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:NM_001378444
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:XM_011511090
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:XM_011511091
Location:3UTRS;EXON

Gene Symbol:SP110
Accession:NM_001378447
Location:INTRON

Gene Symbol:SP110
Accession:XM_017003969
Location:INTRON

Gene Symbol:SP110
Accession:NM_001185015
Location:INTRON

Gene Symbol:SP110
Accession:NM_004510
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000328957 CLINVAR
dbSNP (RS) rs76598053 CLINVAR
MedGen C1856128 CLINVAR
NCBI Gene SP110 CLINVAR
OMIM 235550 CLINVAR
  604457 CLINVAR