Full data view for gene IL21R

Information The variants shown are described using the NM_181078.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-5883749_*1871641del r.0? p.0? Unknown - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-230805_*4428080dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-/. - c.-17+400T>C r.(=) p.(=) Unknown - benign g.27414339T>C - IL21R(NM_181079.5):c.-91-62T>C - IL21R_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-17+458G>A r.(=) p.(=) Unknown - likely benign g.27414397G>A g.27403076G>A IL21R(NM_181079.4):c.-91-4G>A - IL21R_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-17+585C>T r.(=) p.(=) Unknown - benign g.27414524C>T - IL21R(NM_181079.5):c.33C>T (p.H11=) - IL21R_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16-3C>G r.spl? p.? Unknown - VUS g.27441374C>G - IL21R(NM_181079.4):c.51-3C>G - IL21R_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7C>T r.(?) p.(Arg3Cys) Unknown - likely benign g.27441399C>T g.27430078C>T IL21R(NM_181079.4):c.73C>T (p.R25C) - IL21R_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19G>A r.(?) p.(Ala7Thr) Unknown - likely benign g.27441411G>A g.27430090G>A IL21R(NM_181079.4):c.85G>A (p.A29T) - IL21R_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63C>T r.(?) p.(Pro21=) Unknown - likely benign g.27445681C>T g.27434360C>T IL21R(NM_181079.4):c.129C>T (p.P43=) - IL21R_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.137C>T r.(?) p.(Thr46Met) Unknown - likely benign g.27445755C>T g.27434434C>T IL21R(NM_181079.4):c.203C>T (p.T68M) - IL21R_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426C>T r.(?) p.(Tyr142=) Unknown - likely benign g.27454356C>T g.27443035C>T IL21R(NM_181079.4):c.492C>T (p.Y164=), IL21R(NM_181079.5):c.492C>T (p.Y164=) - IL21R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426C>T r.(?) p.(Tyr142=) Unknown - likely benign g.27454356C>T - IL21R(NM_181079.4):c.492C>T (p.Y164=), IL21R(NM_181079.5):c.492C>T (p.Y164=) - IL21R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531A>G r.(?) p.(Ser177=) Unknown - likely benign g.27455886A>G - IL21R(NM_181079.5):c.597A>G (p.S199=) - IL21R_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.535del r.(?) p.(Asp179Thrfs*52) Both (homozygous) - pathogenic g.27455890del g.27444569del 535delG - IL21R_000006 - PubMed: Erman 2015 - - Germline yes - - - - DNA SEQ-NG-I - - - - PubMed: Erman 2015 missing phenotype M yes Turkey - - - - - 1 Baran Erman
?/. - c.571C>T r.(?) p.(Arg191Cys) Unknown - VUS g.27455926C>T g.27444605C>T IL21R(NM_181079.4):c.637C>T (p.R213C), IL21R(NM_181079.5):c.637C>T (p.R213C) - IL21R_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.571C>T r.(?) p.(Arg191Cys) Unknown - likely benign g.27455926C>T - IL21R(NM_181079.4):c.637C>T (p.R213C), IL21R(NM_181079.5):c.637C>T (p.R213C) - IL21R_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.785+16G>C r.(=) p.(=) Unknown - benign g.27456613G>C g.27445292G>C IL21R(NM_181079.5):c.851+16G>C - IL21R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.824G>A r.(?) p.(Arg275Gln) Unknown - likely benign g.27457366G>A - IL21R(NM_181078.2):c.824G>A (p.(Arg275Gln)) - IL21R_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.954C>G r.(?) p.(Ser318Arg) Unknown - benign g.27459941C>G g.27448620C>G IL21R(NM_181079.4):c.1020C>G (p.S340R) - IL21R_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033G>A r.(?) p.(Gly345Ser) Unknown - likely benign g.27460020G>A g.27448699G>A IL21R(NM_181079.4):c.1099G>A (p.G367S), IL21R(NM_181079.5):c.1099G>A (p.G367S) - IL21R_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033G>A r.(?) p.(Gly345Ser) Unknown - likely benign g.27460020G>A - IL21R(NM_181079.4):c.1099G>A (p.G367S), IL21R(NM_181079.5):c.1099G>A (p.G367S) - IL21R_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236A>C r.(?) p.(Pro412=) Unknown - likely benign g.27460223A>C - IL21R(NM_181079.4):c.1302A>C (p.P434=) - IL21R_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1331G>A r.(?) p.(Ser444Asn) Unknown - likely benign g.27460318G>A - IL21R(NM_181079.5):c.1397G>A (p.S466N) - IL21R_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1467G>A r.(?) p.(Thr489=) Unknown - likely benign g.27460454G>A g.27449133G>A IL21R(NM_181079.4):c.1533G>A (p.T511=) - IL21R_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557C>T r.(?) p.(Tyr519=) Unknown - likely benign g.27460544C>T g.27449223C>T IL21R(NM_181079.4):c.1623C>T (p.Y541=) - IL21R_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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