All individuals with variants in gene IVD

11 entries on 1 page. Showing entries 1 - 11.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000068 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000124 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 2 1 Ivo F.A.C. Fokkema
00000125 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 2 1 Ivo F.A.C. Fokkema
00000126 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 1 1 Ivo F.A.C. Fokkema
00000127 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 2 1 Ivo F.A.C. Fokkema
00000128 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 1 1 Ivo F.A.C. Fokkema
00000129 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - 2 1 Ivo F.A.C. Fokkema
00000130 - PubMed: Vockley et al (2000) Other IVD allele unknown; no RNA detected but no second variant found in exon region or exon/intron boundaries. - - - - - - - - IVA - 1 1 Ivo F.A.C. Fokkema
00050436 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - 0 Decipher - ? semilobar holoprosencephaly, seizures, intellectual disability profound, central diabetes insipidus, chronic metabolic acidosis, hypotelorism 1 2 Johan den Dunnen
00291187 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291188 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
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