RGD:8687800 Rat Genome Database

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Variant: RGD:8687800 -  Homo sapiens

RGD ID: 8687800
RS ID: rs200150755
ClinVar ID: CV138268
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL7R  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 35,874,616
GRCh38 5 35,874,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_74:g.22626A>G
NG_009567.1:g.22626A>G
NC_000005.10:g.35874514A>G
NC_000005.9:g.35874616A>G
More... 		01/05/2023 intron variant|missense variant uncertain significance|not provided AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL7R
Accession:NM_002185
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
ILLTISILSFFSVALLVVLACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNPESFLDCQIHRVDDIQARDEV
EGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPESFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHV
YQDLLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ*

Gene Symbol:IL7R
Accession:XM_047417149
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
ILLTISILSFFSVALLVVLACVLWKKKD*

Gene Symbol:IL7R
Accession:XM_047417150
Location:INTRON

Gene Symbol:IL7R
Accession:NM_001410734
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121218 CLINVAR
  RCV003398729 CLINVAR
dbSNP (RS) rs200150755 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene IL7R CLINVAR
OMIM 146661 CLINVAR