RGD:21069353 Rat Genome Database

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Variant: RGD:21069353 -  Homo sapiens

RGD ID: 21069353
RS ID: rs141698985
ClinVar ID: CV792668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL7R  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 35,867,451
GRCh38 5 35,867,349
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.265C>T
LRG_74:g.15461C>T
NG_009567.1:g.15461C>T
NC_000005.10:g.35867349C>T
More... 		10/10/2023 non-coding transcript variant pathogenic|likely pathogenic none provided; Omenn syndrome; Reticuloendotheliosis familial with eosinophilia; 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 with hypereosinophilia; 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:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKL*EIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGLSLS
YGPVSPIIRRLWNIFVRNQEKI*

Gene Symbol:IL7R
Accession:XM_047417149
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKL*EIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
ILLTISILSFFSVALLVILACVLWKKKD*

Gene Symbol:IL7R
Accession:NM_002185
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKL*EIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
ILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNPESFLDCQIHRVDDIQARDEV
EGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPESFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHV
YQDLLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKL*EIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGLSLS
YGPVSPIIRRLWNIFVRNQEKI*

Gene Symbol:IL7R
Accession:XM_047417150
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKL*EIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGLSLS
YGPVSPIIRRLWNIFVRNQEK*

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

Variant Samples
Additional References at PubMed
PMID:21664875   PMID:25741868   PMID:26123418   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000991308 CLINVAR
  RCV001726410 CLINVAR
  RCV001869366 CLINVAR
  RCV003898007 CLINVAR
dbSNP (RS) rs141698985 CLINVAR
MedGen C2700553 CLINVAR
  C3661900 CLINVAR
  C5676890 CLINVAR
NCBI Gene IL7R CLINVAR
OMIM 146661 CLINVAR
  603554 CLINVAR
  608971 CLINVAR
SNOMED CT 307650006 CLINVAR