RGD:11587390 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:11587390 -  Homo sapiens

RGD ID: 11587390
RS ID: rs9292617
ClinVar ID: CV303877
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL7R  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 35,877,826
GRCh38 5 35,877,724
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_74:g.25836A>T
NG_009567.1:g.25836A>T
NC_000005.10:g.35877724A>T
NC_000005.9:g.35877826A>T
More...
06/14/2016 3 prime utr variant benign 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:NM_002185
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:IL7R
Accession:NM_001410734
Location:3UTRS;EXON

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

Gene Symbol:IL7R
Accession:XM_047417150
Location:INTRON

Gene Symbol:IL7R
Accession:XM_047417149
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000294594 CLINVAR
dbSNP (RS) rs9292617 CLINVAR
MedGen C5676890 CLINVAR
NCBI Gene IL7R CLINVAR
OMIM 146661 CLINVAR
  608971 CLINVAR