RGD:8687802 Rat Genome Database

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Variant: RGD:8687802 -  Homo sapiens

RGD ID: 8687802
RS ID: rs137868226
ClinVar ID: CV138270
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL7R  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 35,874,604
GRCh38 5 35,874,502
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_74:g.22614G>A
NG_009567.1:g.22614G>A
NC_000005.10:g.35874502G>A
NC_000005.9:g.35874604G>A
More... 		11/02/2021 intron variant|missense variant conflicting interpretations of pathogenicity|uncertain significance|not provided AllHighlyPenetrant; 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_047417149
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
ILLTISILSFFSVTLLVILACVLWKKKD*

Gene Symbol:IL7R
Accession:NM_002185
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
ILLTISILSFFSVTLLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNPESFLDCQIHRVDDIQARDEV
EGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPESFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHV
YQDLLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ*

Gene Symbol:IL7R
Accession:NM_001410734
Location:INTRON

Gene Symbol:IL7R
Accession:XM_047417150
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:24728327   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121220 CLINVAR
  RCV000697247 CLINVAR
dbSNP (RS) rs137868226 CLINVAR
MedGen C5676890 CLINVAR
  CN169374 CLINVAR
NCBI Gene IL7R CLINVAR
OMIM 146661 CLINVAR
  608971 CLINVAR