RGD:26891560 Rat Genome Database

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Variant: RGD:26891560 -  Homo sapiens

RGD ID: 26891560
RS ID: rs1760068715
ClinVar ID: CV851986
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL7R  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 35,871,321
GRCh38 5 35,871,219
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002185.5:c.537+6T>C
NG_009567.1:g.19331T>C
NC_000005.10:g.35871219T>C
NC_000005.9:g.35871321T>C
More... 		12/04/2019 intron variant uncertain significance SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, IL7R-Related; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL7R
Accession:XM_047417150
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IL7R
Accession:NM_001410734
Location:INTRON

Gene Symbol:IL7R
Accession:XM_047417149
Location:INTRON

Gene Symbol:IL7R
Accession:NM_002185
Location:INTRON

Gene Symbol:IL7R
Accession:NR_120485
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001060613 CLINVAR
dbSNP (RS) rs1760068715 CLINVAR
MedGen C5676890 CLINVAR
NCBI Gene IL7R CLINVAR
OMIM 146661 CLINVAR
  608971 CLINVAR