Full data view for gene THUMPD1

Information The variants shown are described using the NM_017736.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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     
?/. - c.133G>A r.(?) p.(Gly45Ser) Both (homozygous) ACMG VUS g.20752929C>T g.20741607C>T - - THUMPD1_000009 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam9PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - 3 Johan den Dunnen
?/. - c.133G>A r.(?) p.(Gly45Ser) Both (homozygous) ACMG VUS g.20752929C>T g.20741607C>T - - THUMPD1_000009 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam9PatII2 PubMed: Broly 2022, Journal: Broly 2022 brother M yes - - - - - - 1 Johan den Dunnen
?/. - c.133G>A r.(?) p.(Gly45Ser) Both (homozygous) ACMG VUS g.20752929C>T g.20741607C>T - - THUMPD1_000009 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam9PatII3 PubMed: Broly 2022, Journal: Broly 2022 brother M yes - - - - - - 1 Johan den Dunnen
+/. - c.303_306del r.(?) p.(Glu102LeufsTer10) Both (homozygous) ACMG pathogenic (recessive) g.20750324_20750327del g.20739002_20739005del - - THUMPD1_000008 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam5PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - 1 Johan den Dunnen
+/. - c.341T>G r.(?) p.(Leu114Ter) Both (homozygous) ACMG pathogenic (recessive) g.20750284A>C g.20738962A>C - - THUMPD1_000007 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam4PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.469C>T r.(?) p.(Arg157Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.20749216G>A g.20737894G>A - - THUMPD1_000006 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam6PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.490C>T r.(?) p.(Pro164Ser) Maternal (confirmed) ACMG pathogenic (recessive) g.20749195G>A g.20737873G>A - - THUMPD1_000005 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam6PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.495dup r.(?) p.(Ser166LeufsTer24) Both (homozygous) ACMG pathogenic (recessive) g.20749190dup g.20737868dup - - THUMPD1_000004 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no - - - - - - 2 Johan den Dunnen
+/. - c.495dup r.(?) p.(Ser166LeufsTer24) Both (homozygous) ACMG pathogenic (recessive) g.20749190dup g.20737868dup - - THUMPD1_000004 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatII2 PubMed: Broly 2022, Journal: Broly 2022 brother M no - - - - - - 1 Johan den Dunnen
+/. - c.634dup r.(?) p.(Glu212GlyfsTer18) Both (homozygous) ACMG pathogenic (recessive) g.20749051dup g.20737729dup - - THUMPD1_000003 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam8PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes - - - - - - 2 Johan den Dunnen
+/. - c.634dup r.(?) p.(Glu212GlyfsTer18) Both (homozygous) ACMG pathogenic (recessive) g.20749051dup g.20737729dup - - THUMPD1_000003 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam8PatII3 PubMed: Broly 2022, Journal: Broly 2022 sister F yes - - - - - - 1 Johan den Dunnen
+?/. - c.706C>T r.(?) p.(Gln236*) Both (homozygous) ACMG likely pathogenic (recessive) g.20748558G>A g.20737236G>A - - THUMPD1_000001 ACMG PVS1, PM2 PubMed: Maddirevula 2019 - - Germline - - - - - DNA SEQ-NG - WES ? 15DG1395 PubMed: Maddirevula 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.706C>T r.(?) p.(Gln236Ter) Both (homozygous) ACMG pathogenic (recessive) g.20748558G>A g.20737236G>A - - THUMPD1_000001 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam2PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - 2 Johan den Dunnen
+/. - c.706C>T r.(?) p.(Gln236Ter) Both (homozygous) ACMG pathogenic (recessive) g.20748558G>A g.20737236G>A - - THUMPD1_000001 carries variant in HISTH1E causing Rahman syndrome (not specified) PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam2PatII2 PubMed: Broly 2022, Journal: Broly 2022 brother M yes - - - - - - 1 Johan den Dunnen
+/. - c.706C>T r.(?) p.(Gln236Ter) Both (homozygous) ACMG pathogenic (recessive) g.20748558G>A g.20737236G>A - - THUMPD1_000001 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam3PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - 1 Johan den Dunnen
+/. - c.774_776del r.(?) p.(Leu258del) Both (homozygous) ACMG pathogenic (recessive) g.20748492_20748494del g.20737170_20737172del - - THUMPD1_000002 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam7PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents M yes - - - - - - 3 Johan den Dunnen
+/. - c.774_776del r.(?) p.(Leu258del) Both (homozygous) ACMG pathogenic (recessive) g.20748492_20748494del g.20737170_20737172del - - THUMPD1_000002 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam7PatII2 PubMed: Broly 2022, Journal: Broly 2022 sister F yes - - - - - - 1 Johan den Dunnen
+/. - c.774_776del r.(?) p.(Leu258del) Both (homozygous) ACMG pathogenic (recessive) g.20748492_20748494del g.20737170_20737172del - - THUMPD1_000002 - PubMed: Broly 2022, Journal: Broly 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam7PatII3 PubMed: Broly 2022, Journal: Broly 2022 brother M yes - - - - - - 1 Johan den Dunnen
+?/. - c.774_776del r.(?) p.(Leu258del) Both (homozygous) - VUS g.20748492_20748494del g.20737170_20737172del - - THUMPD1_000002 reported as candidate disease gene PubMed: Al-Kasbi 2022 - rs772419789 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10SS8000 PubMed: Al-Kasbi 2022 patient, other affecteds in family M yes Oman - - - - - 1 Johan den Dunnen
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