Full data view for gene EDA2R

Information The variants shown are described using the NM_021783.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.22T>C r.(?) p.(Tyr8His) Unknown - benign g.65835841A>G g.66615999A>G EDA2R(NM_001199687.2):c.22T>C (p.Y8H) - EDA2R_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.170G>A r.(?) p.(Arg57Lys) Maternal (inferred) - VUS g.65824986C>T g.66605144C>T - - EDA2R_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.170G>A r.(?) p.(Arg57Lys) Maternal (inferred) - VUS g.65824986C>T g.66605144C>T - - EDA2R_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.170G>A r.(?) p.(Arg57Lys) Parent #1 - VUS g.65824986C>T g.66605144C>T - - EDA2R_000004 recurrent, found 140 times PubMed: Tarpey 2009 - - Germline - 140/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 140 Lucy Raymond
-/. - c.334C>T r.(?) p.(Pro112Ser) Unknown - benign g.65824281G>A g.66604439G>A EDA2R(NM_001199687.2):c.334C>T (p.P112S, p.(Pro112Ser)), EDA2R(NM_001324206.2):c.334C>T (p.P112S) - EDA2R_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.334C>T r.(?) p.(Pro112Ser) Unknown - benign g.65824281G>A g.66604439G>A EDA2R(NM_001199687.2):c.334C>T (p.P112S, p.(Pro112Ser)), EDA2R(NM_001324206.2):c.334C>T (p.P112S) - EDA2R_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334C>T r.(?) p.(Pro112Ser) Unknown - likely benign g.65824281G>A - EDA2R(NM_001199687.2):c.334C>T (p.P112S, p.(Pro112Ser)), EDA2R(NM_001324206.2):c.334C>T (p.P112S) - EDA2R_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385A>G - p.(Thr129Ala) Maternal (inferred) - VUS g.65822607T>C g.66602765T>C - - EDA2R_000001 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.385A>G - p.(Thr129Ala) Maternal (inferred) - VUS g.65822607T>C g.66602765T>C - - EDA2R_000001 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.621C>T r.(=) p.(=) Parent #1 - likely benign g.65819599G>A g.66599757G>A N207N - EDA2R_000029 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.671C>T r.(?) p.(Ser224Leu) Unknown - likely benign g.65819549G>A g.66599707G>A EDA2R(NM_001324206.1):c.677C>T (p.S226L) - EDA2R_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10+29dup r.(=) p.(=) Maternal (inferred) - VUS g.65819293dup g.66599451dup - - EDA2R_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*10+29dup r.(=) p.(=) Maternal (inferred) - VUS g.65819293dup g.66599451dup - - EDA2R_000026 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*10+29dup r.(=) p.(=) Maternal (inferred) - VUS g.65819293dup g.66599451dup - - EDA2R_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*10+29dup r.(=) p.(=) Maternal (inferred) - VUS g.65819293dup g.66599451dup - - EDA2R_000026 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*10+93T>C r.(=) p.(=) Maternal (inferred) - VUS g.65819223A>G g.66599381A>G - - EDA2R_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*10+93T>C r.(=) p.(=) Maternal (inferred) - VUS g.65819223A>G g.66599381A>G - - EDA2R_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*206T>G r.(=) p.(=) Maternal (inferred) - VUS g.65817740A>C g.66597898A>C - - EDA2R_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*206T>G r.(=) p.(=) Maternal (inferred) - VUS g.65817740A>C g.66597898A>C - - EDA2R_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*424T>C r.(=) p.(=) Maternal (inferred) - VUS g.65817522A>G g.66597680A>G - - EDA2R_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*424T>C r.(=) p.(=) Maternal (inferred) - VUS g.65817522A>G g.66597680A>G - - EDA2R_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2077del r.(=) p.(=) Unknown - VUS g.65815870del g.66596028del - - EDA2R_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2129C>T r.(=) p.(=) Maternal (inferred) - VUS g.65815817G>A g.66595975G>A - - EDA2R_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2129C>T r.(=) p.(=) Maternal (inferred) - VUS g.65815817G>A g.66595975G>A - - EDA2R_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2355A>G r.(=) p.(=) Maternal (inferred) - VUS g.65815591T>C g.66595749T>C - - EDA2R_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2355A>G r.(=) p.(=) Maternal (inferred) - VUS g.65815591T>C g.66595749T>C - - EDA2R_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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