Unique variants in the DHH gene

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

23 entries on 1 page. Showing entries 1 - 23.
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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 1_3 c.? r.(?) p.? - VUS g.? - - - DHH_000000 unknown variant 2nd chromosome PubMed: Paliwal 2011 - - Unknown - - - - - Luz Berenice Lopez-Hernandez
+/? 1 1 c.2T>C r.(?) p.0? - pathogenic g.49488294A>G g.49094511A>G Met1Thr - DHH_000001 46,XY PubMed: Umehara 2000, OMIM:var0001 - - Germline - - - - - Luz Berenice Lopez-Hernandez
-?/. 1 - c.25C>T r.(?) p.(Pro9Ser) - 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 - - - - - VKGL-NL_Rotterdam
+/? 1 1 c.57_60dup r.(?) p.(Gln21Serfs*71) - pathogenic g.49488239_49488242dup g.49094456_49094459dup 57_60dupAGCC - DHH_000004 46XY; SRY normal PubMed: Das 2011 - - Unknown - - - - - Luz Berenice Lopez-Hernandez
?/. 1 - c.80G>A r.(?) p.(Arg27Gln) - VUS g.49488216C>T g.49094433C>T - 46,XY DHH_000022 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 - c.92G>C r.(?) p.(Gly31Ala) - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.134A>G r.(?) p.(Tyr45Cys) - VUS g.49488162T>C - DHH(NM_021044.4):c.134A>G (p.Y45C) - DHH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.188C>G r.(?) p.(Ala63Gly) - 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 - - - - - VKGL-NL_AMC
+/? 1 1 c.271_273del r.(?) p.(Glu91del) - pathogenic g.49488026_49488028del g.49094243_49094245del 271_273delGAG - DHH_000005 46XY; SRY normal PubMed: Das 2011 - - Unknown - - - - - Luz Berenice Lopez-Hernandez
+/? 1 2 c.427G>A r.(?) p.(Glu143Lys) - pathogenic g.49485049C>T g.49091266C>T - - DHH_000006 46XY; SRY normal PubMed: Paliwal 2011 - - Germline - - - - - Luz Berenice Lopez-Hernandez
+/? 1 2 c.485T>C r.(?) p.(Leu162Pro) - pathogenic g.49484991A>G g.49091208A>G - - DHH_000003 not in 200 control chromosomes; 46XY; SRY normal PubMed: Canto 2004, OMIM:var0002 - - Unknown - - - - - Luz Berenice Lopez-Hernandez
+?/. 1 - c.491G>C r.(?) p.(Arg164Pro) - likely pathogenic g.49484985C>G g.49091202C>G - 46,XY DHH_000021 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+?/., ?/. 2 - c.508G>A r.(?) p.(Gly170Ser) - likely pathogenic, VUS g.49484968C>T g.49091185C>T - 46,XY DHH_000020 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
-/., ?/. 2 - c.543C>T r.(=), r.(?) p.(=), p.(His181=) - benign, VUS g.49484933G>A g.49091150G>A DHH(NM_021044.4):c.543C>T (p.H181=) - DHH_000013 138 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs117527954 CLASSIFICATION record, Germline - 138/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.583C>T r.(?) p.(Arg195Trp) - VUS g.49484250G>A g.49090467G>A - 46,XY DHH_000019 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.616G>C r.(?) p.(Val206Leu) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.651G>A r.(?) p.(Arg217=) - 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 - - - - - VKGL-NL_AMC
+?/. 1 - c.680C>T r.(?) p.(Ala227Val) - likely pathogenic g.49484153G>A g.49090370G>A - 46,XY DHH_000018 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.746G>A r.(?) p.(Arg249His) - likely pathogenic g.49484087C>T g.49090304C>T - 46,XY DHH_000017 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.782C>T r.(?) p.(Pro261Leu) - likely pathogenic g.49484051G>A g.49090268G>A - 46,XY DHH_000016 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1058C>G r.(?) p.(Ala353Gly) - likely pathogenic g.49483775G>C g.49089992G>C - 46,XY DHH_000015 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+/? 2 3 c.1086del r.(?) p.(Leu363Cysfs*4) - pathogenic g.49483747del g.49089964del - - DHH_000002 not in 200 control chromosomes; 46XY; SRY normal PubMed: Canto 2004, PubMed: Canto 2005, OMIM:var0003 - - Unknown - - - - - Luz Berenice Lopez-Hernandez
-?/. 1 - c.1134T>A r.(?) p.(Thr378=) - 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 - - - - - VKGL-NL_AMC
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