RGD:38482045 Rat Genome Database

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Variant: RGD:38482045 -  Homo sapiens

RGD ID: 38482045
RS ID: rs776217510
ClinVar ID: CV943780
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL21  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 123,536,915
GRCh38 4 122,615,760
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1263t1:c.282G>T
NM_021803.4:c.282G>T
LRG_1263:g.10307G>T
NG_031966.2:g.10307G>T
More... 		09/11/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IL21
Accession:NM_001207006
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSSPGNMERIVICLMVIFLGTLVHKSSSQGQDRHMIRMRQLIDIVDQLKNYVNDLVPEFLPAPEDVETNCEWSAFSCFQ
KAQLKSANTGNNESIINVSIKKLKRKPPSTNAGRRQKHRLTCPSCDSYEKKPPKEFLERFKSLLQKVSTLSFI*

Gene Symbol:IL21
Accession:NM_021803
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSSPGNMERIVICLMVIFLGTLVHKSSSQGQDRHMIRMRQLIDIVDQLKNYVNDLVPEFLPAPEDVETNCEWSAFSCFQ
KAQLKSANTGNNESIINVSIKKLKRKPPSTNAGRRQKHRLTCPSCDSYEKKPPKEFLERFKSLLQKMIHQHLSSRTHGSE
DS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001235295 CLINVAR
dbSNP (RS) rs776217510 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IL21 CLINVAR
OMIM 605384 CLINVAR