RGD:28886002 Rat Genome Database

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Variant: RGD:28886002 -  Homo sapiens

RGD ID: 28886002
RS ID: rs1452980309
ClinVar ID: CV902733
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127898232  XIAP  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 122,994,034
GRCh38 X 123,860,184
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204401.2:c.-33+279G>C
NM_001378592.1:c.-33+446G>C
LRG_19:g.4987G>C
NM_001167.3:c.-142G>C
More... 		01/13/2018 5 prime utr variant uncertain significance Lymphoproliferative syndrome 2, X-linked
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:XIAP
Accession:NM_001167
Location:5UTRS;EXON

Gene Symbol:XIAP
Accession:NM_001378591
Location:5UTRS;EXON

Gene Symbol:XIAP
Accession:NM_001204401
Location:5UTRS;INTRON

Gene Symbol:XIAP
Accession:NM_001378592
Location:5UTRS;INTRON

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

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

Gene Symbol:XIAP
Accession:NM_001378590
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168939 CLINVAR
dbSNP (RS) rs1452980309 CLINVAR
MedGen C1845076 CLINVAR
NCBI Gene XIAP CLINVAR
OMIM 300079 CLINVAR
  300635 CLINVAR