Full data view for gene EDARADD

Information The variants shown are described using the NM_145861.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.27G>A r.(?) p.(Met9Ile) Unknown - benign g.236557771G>A g.236394471G>A EDARADD(NM_145861.4):c.27G>A (p.M9I) - EDARADD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.120+1G>A r.[120_121insauag,70_120del] p.[Ala54fs,Val24fs] Both (homozygous) - pathogenic (recessive) g.236572575G>A - IVS2+1G>A - EDARADD_000012 effect on splicing derived from in vitro pCAS minigene splicing assay PubMed: Chaudhary 2016 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HED family PubMed: Chaudhary 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes India - - - - - 2 Johan den Dunnen
+/. - c.159dup r.(?) p.(Ala54Serfs*2) Paternal (confirmed) - pathogenic (dominant) g.236577598dup g.236414298dup 157insA - EDARADD_000013 - PubMed: Koguchi-Yoshioka 2015 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Koguchi-Yoshioka 2015, - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_4i c.(160+1_161-1)_(219+1_220-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(236577600_236590691)_(236590751_236631530)del g.(236414300_236427391)_(236427451_236468230)del c.131-?_189+?del ex4 - EDARADD_000010 - PubMed: Cluzeau 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - ECTD family PubMed: Cluzeau 2019 5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - - - - 6 Johan den Dunnen
-/. - c.265+57A>G r.(=) p.(=) Unknown - benign g.236631633A>G g.236468333A>G EDARADD(NM_145861.3):c.265+57A>G - EDARADD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.308C>T r.(?) p.(Ser103Phe) Unknown - likely benign g.236645609C>T g.236482309C>T EDARADD(NM_145861.4):c.308C>T (p.S103F) - EDARADD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.308C>T r.(?) p.(Ser103Phe) Parent #1 - likely benign g.236645609C>T g.236482309C>T - - EDARADD_000006 47 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114632254 Germline - 47/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 47 Mohammed Faruq
-?/. - c.308C>T r.(?) p.(Ser103Phe) Parent #1 - likely benign g.236645609C>T g.236482309C>T 278C>T (Ser123Phe) - EDARADD_000006 - PubMed: Chassaing 2010 - - Germline - 2/27 cases HED - - - DNA SEQ - - HED patientss PubMed: Chassaing 2010 - - - France - - - - - 2 Johan den Dunnen
?/. 6 c.308C>T r.(?) p.(Ser103Phe) Parent #1 - VUS g.236645609C>T g.236482309C>T - - EDARADD_000006 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - HED Pat38 PubMed: Martínez-Romero 2019 - F - Spain - - - - - 1 Johan den Dunnen
?/. 6 c.308C>T r.(?) p.(Ser103Phe) Parent #1 - VUS g.236645609C>T g.236482309C>T - - EDARADD_000006 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - HED Pat40 PubMed: Martínez-Romero 2019 - M - Spain - - - - - 1 Johan den Dunnen
?/. 6 c.308C>T r.(?) p.(Ser103Phe) Parent #1 - VUS g.236645609C>T g.236482309C>T - - EDARADD_000006 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - HED Pat21 PubMed: Martínez-Romero 2019 - M - Spain - - - - - 1 Johan den Dunnen
?/. 6 c.308C>T r.(?) p.(Ser103Phe) Parent #1 - VUS g.236645609C>T g.236482309C>T - - EDARADD_000006 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - ? Pat51 PubMed: Martínez-Romero 2019 - M - Spain - - - - - 1 Johan den Dunnen
?/. 6 c.308C>T r.(?) p.(Ser103Phe) Parent #1 - VUS g.236645609C>T g.236482309C>T - - EDARADD_000006 - PubMed: Martínez-Romero 2019 - - Germline - - - - - DNA SEQ - - ? Pat39 PubMed: Martínez-Romero 2019 - M - Spain - - - - - 1 Johan den Dunnen
-?/. - c.308C>T r.(?) p.(Ser103Phe) Maternal (confirmed) - likely benign g.236645609C>T - 278C>T (Ser93Phe) - EDARADD_000006 - PubMed: van der Hout 2008 - - Germline - - - - - DNA SEQ - - HED patient PubMed: van der Hout 2008 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - - - - - - 1 Johan den Dunnen
+/. 6 c.358G>T r.(?) p.(Asp120Tyr) Parent #1 - pathogenic g.236645659G>T g.236482359G>T NM_080738.3:c.328G>T - EDARADD_000002 - PubMed: Cluzeau 2011 - - Germline yes - - - - DNA SEQ - - ECTD11A - PubMed: Cluzeau 2011 - F no France - >11y - - - 1 Johan den Dunnen
+/. - c.365T>G r.(?) p.(Leu122Arg) Parent #1 - pathogenic (dominant) g.236645666T>G - 335T>G (Leu112Arg) - EDARADD_000015 - PubMed: Bal 2007 - - Germline yes - - - - DNA SEQ - - ? family PubMed: Bal 2007 3-generation family, 7 affected (3F, 4M) F;M - Morocco - - - - - 1 Johan den Dunnen
+?/. 6 c.367G>A r.(?) p.(Asp123Asn) Maternal (confirmed) - pathogenic (dominant) g.236645668G>A g.236482368G>A - - EDARADD_000001 - PubMed: Wohlfart 2016 - - Germline yes - - - - DNA SEQ - - ECTD11A FamPatIII1 PubMed: Wohlfart 2016 3-generation family, 3 affected (2F, M) F - Germany - - - - - 1 Sigrun Maier-Wohlfart
+/. - c.367G>A r.(?) p.(Asp123Asn) Unknown - pathogenic g.236645668G>A g.236482368G>A - - EDARADD_000001 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - - - DNA SEQ - - ECTD - PubMed: Wohlfart 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.367G>A r.(?) p.(Asp123Asn) Unknown - pathogenic g.236645668G>A g.236482368G>A - - EDARADD_000001 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - - - DNA SEQ - - ECTD - PubMed: Wohlfart 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.367G>A r.(?) p.(Asp123Asn) Unknown - pathogenic g.236645668G>A g.236482368G>A - - EDARADD_000001 - PubMed: Wohlfart 2016 - - Germline - 3/124 cases - - - DNA SEQ - - ECTD - PubMed: Wohlfart 2016 - - - Germany - - - - - 1 Johan den Dunnen
-/. - c.369C>T r.(?) p.(Asp123=) Unknown - benign g.236645670C>T g.236482370C>T EDARADD(NM_080738.4):c.339C>T (p.D113=) - EDARADD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.391C>T r.(?) p.(Pro131Ser) Unknown - pathogenic (dominant) g.236645692C>T - 361C>T (P121S) - EDARADD_000014 - PubMed: Suda 2010 - - De novo - - - - - DNA SEQ - - HED patient PubMed: Suda 2010 2-generation family, 1 affected, unaffected non-carrier parents M - Mongolia - - - - - 1 Johan den Dunnen
+/. - c.402_407del r.(?) p.(Thr135_Val136del) Both (homozygous) - pathogenic (recessive) g.236645703_236645708del g.236482403_236482408del - - EDARADD_000011 - PubMed: Chassaing 2010 - - Germline - - - - - DNA SEQ - - HED patient PubMed: Chassaing 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.454G>A r.(?) p.(Glu152Lys) Parent #1 - pathogenic g.236645755G>A g.236482455G>A - - EDARADD_000007 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74315309 Germline - 2/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.454G>A r.(?) p.(Glu152Lys) Both (homozygous) - pathogenic (recessive) g.236645755G>A - G424A (Glu142Lys) - EDARADD_000007 - PubMed: Headon 2001 - - Germline yes - - - - DNA SEQ - - HED FamED1176 PubMed: Headon 2001 4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives F;M yes United States - - - - - 1 Johan den Dunnen
+/. 6 c.454G>A r.(?) p.(Glu152Lys) Both (homozygous) - pathogenic (recessive) g.236645755G>A g.236482455G>A - - EDARADD_000007 - PubMed: Bodemer 2019 - - Germline yes - - - - DNA SEQ - - ECTD EDARADD_F1-1 PubMed: Bodemer 2019 2-generation family, 2 affected sibs M no Turkey - - - - - 2 Johan den Dunnen
+?/. 6 c.454G>A r.(?) p.(Glu152Lys) Both (homozygous) - likely pathogenic (recessive) g.236645755G>A g.236482455G>A - - EDARADD_000007 - PubMed: Bodemer 2019 - - Germline yes - - - - DNA SEQ - - ECTD EDARADD_F1-2 PubMed: Bodemer 2019 - F no Turkey - - - - - 1 Johan den Dunnen
?/. - c.524C>T r.(?) p.(Thr175Met) Unknown - VUS g.236645825C>T g.236482525C>T EDARADD(NM_080738.4):c.494C>T (p.T165M) - EDARADD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1593G>T r.(=) p.(=) Parent #1 - likely benign g.236647542G>T g.236484242G>T - - EDARADD_000008 237 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61736989 Germline - 237/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 237 Mohammed Faruq
-?/. - c.*1593G>T r.(=) p.(=) Both (homozygous) - likely benign g.236647542G>T g.236484242G>T - - EDARADD_000008 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61736989 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
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