Full data view for gene DOHH

Information The variants shown are described using the NM_001145165.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Consanguinity     

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Data_av     

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Panel size     

Owner     
?/. - c.304delG r.(?) p.(Glu102LysfsTer6) Maternal (confirmed) ACMG pathogenic (recessive) g.3494074del g.3494076del c.304del - DOHH_000007 ACMG PVS1, PS3, PM2, PM3, PP4 PubMed: Ziegler 2022, Journal: Ziegler 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat1 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic);France - - - - - 1 Johan den Dunnen
?/. - c.376G>A r.(?) p.(Val126Met) Unknown - VUS g.3492473C>T - DOHH(NM_001145165.2):c.376G>A (p.(Val126Met)) - DOHH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.455C>T r.(?) p.(Pro152Leu) Paternal (confirmed) ACMG pathogenic (recessive) g.3492394G>A g.3492396G>A - - DOHH_000006 ACMG PS3, PM2, PM3, PP3, PP4 PubMed: Ziegler 2022, Journal: Ziegler 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat4 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Johan den Dunnen
?/. - c.455C>T r.(?) p.(Pro152Leu) Unknown - VUS g.3492394G>A - DOHH(NM_001145165.2):c.455C>T (p.(Pro152Leu)), DOHH(NM_031304.5):c.455C>T (p.P152L) - DOHH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.455C>T r.(?) p.(Pro152Leu) Unknown - likely pathogenic g.3492394G>A - DOHH(NM_001145165.2):c.455C>T (p.(Pro152Leu)), DOHH(NM_031304.5):c.455C>T (p.P152L) - DOHH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.552C>A r.(?) p.(Asn184Lys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.3492297G>T g.3492299G>T - - DOHH_000005 ACMG PS3, PM2, PM3, PP3, PP4 PubMed: Ziegler 2022, Journal: Ziegler 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat4 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Johan den Dunnen
?/. - c.575del r.(?) p.(Leu192Argfs*136) Unknown - VUS g.3492274del - DOHH(NM_001145165.2):c.575del (p.(Leu192ArgfsTer136)) - DOHH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.654_655insAACC r.(?) p.(Glu219AsnfsTer54) Maternal (confirmed) ACMG pathogenic (recessive) g.3491745_3491746insGTTG g.3491747_3491748insGTTG - - DOHH_000004 ACMG PVS1, PS3,PM2, PM3, PP4 PubMed: Ziegler 2022, Journal: Ziegler 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat5 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - 25m - - - 1 Johan den Dunnen
?/. - c.654_655insAACC r.(?) p.(Glu219AsnfsTer54) Paternal (confirmed) ACMG pathogenic (recessive) g.3491745_3491746insGTTG g.3491747_3491748insGTTG - - DOHH_000004 ACMG PVS1, PS3,PM2, PM3, PP4 PubMed: Ziegler 2022, Journal: Ziegler 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat2 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, affected sister/brother, unaffected heterozygous carrier parents F - Bosnia and Herzegovina;Croatia (Hrvatska) Bosnia 15y - - - 2 Johan den Dunnen
?/. - c.654_655insAACC r.(?) p.(Glu219AsnfsTer54) Paternal (confirmed) ACMG pathogenic (recessive) g.3491745_3491746insGTTG g.3491747_3491748insGTTG - - DOHH_000004 ACMG PVS1, PS3,PM2, PM3, PP4 PubMed: Ziegler 2022, Journal: Ziegler 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat3 PubMed: Ziegler 2022, Journal: Ziegler 2022 brother M - Bosnia and Herzegovina;Croatia (Hrvatska) Bosnia - - - - 1 Johan den Dunnen
+/. - c.654_655insAACC r.(?) p.(Glu219Asnfs*54) Unknown - pathogenic g.3491745_3491746insGTTG - DOHH(NM_001145165.2):c.654_655insAACC (p.(Glu219Asnfs*54)) - DOHH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>T r.(?) p.(Pro223Leu) Paternal (confirmed) ACMG likely pathogenic (recessive) g.3491731G>A g.3491733G>A - - DOHH_000003 ACMG PS3, PM2, PM3, PP3, PP4 PubMed: Ziegler 2022, Journal: Ziegler 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat5 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - 25m - - - 1 Johan den Dunnen
?/. - c.746T>C r.(?) p.(Ile249Thr) Maternal (confirmed) ACMG pathogenic (recessive) g.3491653A>G g.3491655A>G - - DOHH_000002 ACMG S3, PM2, PM3, PP3, PP4 PubMed: Ziegler 2022, Journal: Ziegler 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat2 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, affected sister/brother, unaffected heterozygous carrier parents F - Bosnia and Herzegovina;Croatia (Hrvatska) Bosnia 15y - - - 2 Johan den Dunnen
?/. - c.746T>C r.(?) p.(Ile249Thr) Maternal (confirmed) ACMG pathogenic (recessive) g.3491653A>G g.3491655A>G - - DOHH_000002 ACMG S3, PM2, PM3, PP3, PP4 PubMed: Ziegler 2022, Journal: Ziegler 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat3 PubMed: Ziegler 2022, Journal: Ziegler 2022 brother M - Bosnia and Herzegovina;Croatia (Hrvatska) Bosnia - - - - 1 Johan den Dunnen
?/. - c.840T>A r.(?) p.(Tyr280Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.3491559A>T g.3491561A>T - - DOHH_000001 ACMG PVS1, PS3, PM2, PM3, PP3, PP4 PubMed: Ziegler 2022, Journal: Ziegler 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat1 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic);France - - - - - 1 Johan den Dunnen
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