RGD:11662522 Rat Genome Database

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Variant: RGD:11662522 -  Homo sapiens

RGD ID: 11662522
RS ID: rs886051635
ClinVar ID: CV323938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIITA  LOC130058442  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 10,971,106
GRCh38 16 10,877,249
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_49:g.5052G>A
NG_009628.1:g.5052G>A
NC_000016.10:g.10877249G>A
NC_000016.9:g.10971106G>A
More... 		01/13/2018 5 prime utr variant uncertain significance infancy <1 / 1 000 000 Bare Lymphocyte Syndrome; Bare lymphocyte syndrome 2; BARE LYMPHOCYTE SYNDROME, TYPE II; BLS 2; BLS, TYPE II; SCID, HLA Class 2-Negative; SCID, HLA CLASS II-NEGATIVE; Severe combined immunodeficiency, HLA class II negative
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CIITA
Accession:NM_001379333
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:XM_047434127
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:XM_047434128
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:NM_001286402
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:XM_047434122
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:XM_047434120
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:NM_001379330
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:NM_001379331
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:XM_047434126
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:NM_001286403
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:NM_001379332
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:NM_000246
Location:5UTRS;EXON

Gene Symbol:CIITA
Accession:XM_047434123
Location:5UTRS;INTRON

Gene Symbol:CIITA
Accession:XM_047434118
Location:5UTRS;INTRON

Gene Symbol:CIITA
Accession:XM_047434114
Location:5UTRS;INTRON

Gene Symbol:CIITA
Accession:XM_047434115
Location:5UTRS;INTRON

Gene Symbol:CIITA
Accession:XR_007064880
Location:EXON;NON-CODING

Gene Symbol:CIITA
Accession:NR_104444
Location:EXON;NON-CODING

Gene Symbol:CIITA
Accession:XM_011522491
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522486
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434125
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522485
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434124
Location:INTRON

Gene Symbol:CIITA
Accession:XM_006720880
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434117
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434116
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434119
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522484
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522490
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379334
Location:INTRON

Gene Symbol:CIITA
Accession:XR_001751904
Location:INTRON;NON-CODING

Gene Symbol:CIITA
Accession:XR_007064879
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000386971 CLINVAR
dbSNP (RS) rs886051635 CLINVAR
MedGen C2931418 CLINVAR
NCBI Gene CIITA CLINVAR
  LOC130058442 CLINVAR
OMIM 209920 CLINVAR
  600005 CLINVAR