RGD:15189081 Rat Genome Database

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Variant: RGD:15189081 -  Homo sapiens

RGD ID: 15189081
RS ID: rs148931962
ClinVar ID: CV721440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL7R  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 35,876,524
GRCh38 5 35,876,422
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.1316C>G
NG_009567.1:g.24534C>G
NC_000005.10:g.35876422C>G
NC_000005.9:g.35876524C>G
More... 		12/31/2019 missense variant likely benign|conflicting interpretations of pathogenicity 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_001410734
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:IL7R
Accession:NM_002185
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 439
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
ILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNPESFLDCQIHRVDDIQARDEV
EGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPESFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHV
YQDLLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILSSLGSNQEEAYVTMSSFYQNQ*

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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000887720 CLINVAR
dbSNP (RS) rs148931962 CLINVAR
MedGen C5676890 CLINVAR
NCBI Gene IL7R CLINVAR
OMIM 146661 CLINVAR
  608971 CLINVAR