RGD:11632174 Rat Genome Database

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Variant: RGD:11632174 -  Homo sapiens

RGD ID: 11632174
RS ID: rs41312771
ClinVar ID: CV348432
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XIAP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 123,047,388
GRCh38 X 123,913,538
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_19t1:c.*6357G>A
LRG_19:g.58341G>A
NG_007264.1:g.58341G>A
NC_000023.11:g.123913538G>A
More...
01/13/2018 3 prime utr variant benign|likely benign Lymphoproliferative syndrome 2, X-linked
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:XIAP
Accession:NM_001204401
Location:3UTRS;EXON

Gene Symbol:XIAP
Accession:NM_001167
Location:3UTRS;EXON

Gene Symbol:XIAP
Accession:NM_001378592
Location:3UTRS;EXON

Gene Symbol:XIAP
Accession:NM_001378591
Location:3UTRS;EXON

Gene Symbol:XIAP
Accession:NM_001378590
Location:3UTRS;EXON

Gene Symbol:XIAP
Accession:NR_037916
Location:EXON;NON-CODING

Gene Symbol:XIAP
Accession:NR_165803
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000400471 CLINVAR
dbSNP (RS) rs41312771 CLINVAR
MedGen C1845076 CLINVAR
NCBI Gene XIAP CLINVAR
OMIM 300079 CLINVAR
  300635 CLINVAR