Full data view for gene DHH

Information The variants shown are described using the NM_021044.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 1_3 c.? r.(?) p.? Maternal (inferred) - VUS g.? - - - DHH_000000 unknown variant 2nd chromosome PubMed: Paliwal 2011 - - Unknown - - - 0 - DNA SEQ - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy - - - F ? India - >14y 0 - - 1 Luz Berenice Lopez-Hernandez
+/? 1 c.2T>C r.(?) p.0? Both (homozygous) - pathogenic g.49488294A>G g.49094511A>G Met1Thr - DHH_000001 46,XY PubMed: Umehara 2000, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy - PubMed: Umehara 1999 mother not available, unaffected sister F yes Japan - - 0 - - 1 Luz Berenice Lopez-Hernandez
-?/. - c.25C>T r.(?) p.(Pro9Ser) Unknown - likely benign g.49488271G>A g.49094488G>A DHH(NM_021044.4):c.25C>T (p.P9S) - DHH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.57_60dup r.(?) p.(Gln21Serfs*71) Both (homozygous) - pathogenic g.49488239_49488242dup g.49094456_49094459dup 57_60dupAGCC - DHH_000004 46XY; SRY normal PubMed: Das 2011 - - Unknown - - - 0 - DNA SEQ - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy - - - F ? India - >17y 0 - - 1 Luz Berenice Lopez-Hernandez
?/. - c.80G>A r.(?) p.(Arg27Gln) Unknown - VUS g.49488216C>T g.49094433C>T - 46,XY DHH_000022 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat251 PubMed: Eggers 2016 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.92G>C r.(?) p.(Gly31Ala) Unknown - likely benign g.49488204C>G g.49094421C>G DHH(NM_021044.4):c.92G>C (p.G31A) - DHH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.92G>C r.(?) p.(Gly31Ala) Unknown - VUS g.49488204C>G g.49094421C>G DHH(NM_021044.4):c.92G>C (p.G31A) - DHH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.134A>G r.(?) p.(Tyr45Cys) Unknown - VUS g.49488162T>C - DHH(NM_021044.4):c.134A>G (p.Y45C) - DHH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188C>G r.(?) p.(Ala63Gly) Unknown - VUS g.49488108G>C g.49094325G>C DHH(NM_021044.4):c.188C>G (p.A63G) - DHH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.271_273del r.(?) p.(Glu91del) Both (homozygous) - pathogenic g.49488026_49488028del g.49094243_49094245del 271_273delGAG - DHH_000005 46XY; SRY normal PubMed: Das 2011 - - Unknown - - - 0 - DNA SEQ - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy - - - F ? India - >26y 0 - - 1 Luz Berenice Lopez-Hernandez
+/? 2 c.427G>A r.(?) p.(Glu143Lys) Paternal (confirmed) - pathogenic g.49485049C>T g.49091266C>T - - DHH_000006 46XY; SRY normal PubMed: Paliwal 2011 - - Germline - - - 0 - DNA SEQ - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy - - - F ? India - >14y 0 - - 1 Luz Berenice Lopez-Hernandez
+/? 2 c.485T>C r.(?) p.(Leu162Pro) Both (homozygous) - pathogenic g.49484991A>G g.49091208A>G - - DHH_000003 not in 200 control chromosomes; 46XY; SRY normal PubMed: Canto 2004, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ, SSCA - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy - - - F ? Mexico - >16y 0 - - 1 Luz Berenice Lopez-Hernandez
+?/. - c.491G>C r.(?) p.(Arg164Pro) Both (homozygous) - likely pathogenic g.49484985C>G g.49091202C>G - 46,XY DHH_000021 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat25 PubMed: Eggers 2016 - rF - - - - 0 - - 1 Johan den Dunnen
?/. - c.508G>A r.(?) p.(Gly170Ser) Parent #1 - VUS g.49484968C>T g.49091185C>T - 46,XY DHH_000020 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat102 PubMed: Eggers 2016 - M - - - - 0 - - 1 Johan den Dunnen
+?/. - c.508G>A r.(?) p.(Gly170Ser) Parent #2 - likely pathogenic g.49484968C>T g.49091185C>T - 46,XY DHH_000020 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat158 PubMed: Eggers 2016 - rF - - - - 0 - - 1 Johan den Dunnen
-/. - c.543C>T r.(?) p.(His181=) Unknown - benign g.49484933G>A g.49091150G>A DHH(NM_021044.4):c.543C>T (p.H181=) - DHH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.543C>T r.(=) p.(=) Parent #1 - VUS g.49484933G>A g.49091150G>A - - DHH_000013 138 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117527954 Germline - 138/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 138 Mohammed Faruq
?/. - c.583C>T r.(?) p.(Arg195Trp) Parent #1 - VUS g.49484250G>A g.49090467G>A - 46,XY DHH_000019 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat42 PubMed: Eggers 2016 - rF - - - - 0 - - 1 Johan den Dunnen
?/. - c.616G>C r.(?) p.(Val206Leu) Unknown - VUS g.49484217C>G g.49090434C>G DHH(NM_021044.4):c.616G>C (p.V206L) - DHH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.651G>A r.(?) p.(Arg217=) Unknown - benign g.49484182C>T g.49090399C>T DHH(NM_021044.4):c.651G>A (p.R217=) - DHH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.680C>T r.(?) p.(Ala227Val) Parent #2 - likely pathogenic g.49484153G>A g.49090370G>A - 46,XY DHH_000018 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat39 PubMed: Eggers 2016 - rF - - - - 0 - - 1 Johan den Dunnen
+?/. - c.746G>A r.(?) p.(Arg249His) Parent #1 - likely pathogenic g.49484087C>T g.49090304C>T - 46,XY DHH_000017 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat158 PubMed: Eggers 2016 - rF - - - - 0 - - 1 Johan den Dunnen
+?/. - c.782C>T r.(?) p.(Pro261Leu) Parent #1 - likely pathogenic g.49484051G>A g.49090268G>A - 46,XY DHH_000016 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat39 PubMed: Eggers 2016 - rF - - - - 0 - - 1 Johan den Dunnen
+?/. - c.1058C>G r.(?) p.(Ala353Gly) Both (homozygous) - likely pathogenic g.49483775G>C g.49089992G>C - 46,XY DHH_000015 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat118 PubMed: Eggers 2016 - - - - - - 0 - - 1 Johan den Dunnen
+/? 3 c.1086del r.(?) p.(Leu363Cysfs*4) Both (homozygous) - pathogenic g.49483747del g.49089964del - - DHH_000002 not in 200 control chromosomes; 46XY; SRY normal PubMed: Canto 2004, PubMed: Canto 2005, OMIM:var0003 - - Unknown - - - 0 - DNA SEQ, SSCA - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy - - parents not available F no Mexico mestizo >19y 0 - - 1 Luz Berenice Lopez-Hernandez
+/? 3 c.1086del r.(?) p.(Leu363Cysfs*4) Both (homozygous) - pathogenic g.49483747del g.49089964del - - DHH_000002 not in 200 control chromosomes; 46XY; SRY normal PubMed: Canto 2004, PubMed: Canto 2005, OMIM:var0003 - - Unknown - - - 0 - DNA SEQ, SSCA - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy - - parents not available F no Mexico mestizo >19y 0 - - 1 Luz Berenice Lopez-Hernandez
-?/. - c.1134T>A r.(?) p.(Thr378=) Unknown - likely benign g.49483699A>T g.49089916A>T DHH(NM_021044.4):c.1134T>A (p.T378=) - DHH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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