RGD:156008788 Rat Genome Database

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Variant: RGD:156008788 -  Homo sapiens

RGD ID: 156008788
ClinVar ID: CV2099914
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIITA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 10,997,754
GRCh38 16 10,903,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286403.2:c.790+2T>C
NM_001379331.1:c.790+2T>C
NM_001379330.1:c.793+2T>C
NM_001379334.1:c.868+2T>C
More... 		12/18/2021 splice donor variant likely pathogenic 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:XM_047434123
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434119
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434122
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001286402
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379334
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434120
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522490
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434115
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434117
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522486
Location:INTRON

Gene Symbol:CIITA
Accession:NM_000246
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522484
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379332
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379330
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434118
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434116
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434125
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522491
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434114
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379333
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434128
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379331
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434126
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001286403
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522485
Location:INTRON

Gene Symbol:CIITA
Accession:XM_006720880
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434127
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434124
Location:INTRON

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:8402893   PMID:9099848   PMID:16199547   PMID:26271388   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002908989 CLINVAR
MedGen C2931418 CLINVAR
NCBI Gene CIITA CLINVAR
OMIM 209920 CLINVAR
  600005 CLINVAR