Unique variants in the EDA2R gene

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.22T>C r.(?) p.(Tyr8His) - 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 - - - - - VKGL-NL_Rotterdam
?/. 3 - c.170G>A r.(?) p.(Arg57Lys) - VUS g.65824986C>T g.66605144C>T - - EDA2R_000004 recurrent, found 140 times PubMed: Tarpey 2009 - - Germline - 140/208 cases - - - Yu Sun, Lucy Raymond
-/., -?/. 3 - c.334C>T r.(?) p.(Pro112Ser) - benign, likely benign g.65824281G>A g.66604439G>A 1 more item - EDA2R_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 2 - c.385A>G - p.(Thr129Ala) - VUS g.65822607T>C g.66602765T>C - - EDA2R_000001 1 more item - - - Germline - - - - - Yu Sun
-?/. 1 - c.621C>T r.(=) p.(=) - likely benign g.65819599G>A g.66599757G>A N207N - EDA2R_000029 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.671C>T r.(?) p.(Ser224Leu) - 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 - - - - - VKGL-NL_Rotterdam
?/. 4 - c.*10+29dup r.(=) p.(=) - VUS g.65819293dup g.66599451dup - - EDA2R_000010, EDA2R_000026 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*10+93T>C r.(=) p.(=) - VUS g.65819223A>G g.66599381A>G - - EDA2R_000007 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*206T>G r.(=) p.(=) - VUS g.65817740A>C g.66597898A>C - - EDA2R_000015 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*424T>C r.(=) p.(=) - VUS g.65817522A>G g.66597680A>G - - EDA2R_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*2077del r.(=) p.(=) - VUS g.65815870del g.66596028del - - EDA2R_000025 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*2129C>T r.(=) p.(=) - VUS g.65815817G>A g.66595975G>A - - EDA2R_000018 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*2355A>G r.(=) p.(=) - VUS g.65815591T>C g.66595749T>C - - EDA2R_000022 - - - - Germline - - - - - Yu Sun
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