RGD:28895932 Rat Genome Database

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Variant: RGD:28895932 -  Homo sapiens

RGD ID: 28895932
RS ID: rs1760251460
ClinVar ID: CV894150
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL7R  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 35,877,786
GRCh38 5 35,877,684
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.35877684G>A
NC_000005.9:g.35877786G>A
NM_002185.5:c.*1198G>A
LRG_74:g.25796G>A
More... 		01/13/2018 3 prime utr 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:NM_002185
Location:3UTRS;EXON

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

Gene Symbol:
Accession:
Location:3UTRS;EXON

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

Gene Symbol:IL7R
Accession:XM_047417149
Location:INTRON

Gene Symbol:IL7R
Accession:XM_047417150
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001154465 CLINVAR
dbSNP (RS) rs1760251460 CLINVAR
MedGen C5676890 CLINVAR
NCBI Gene IL7R CLINVAR
OMIM 146661 CLINVAR
  608971 CLINVAR