Full data view for gene DHPS

Information The variants shown are described using the NM_001930.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.518A>G r.(?) p.(Asn173Ser) Maternal (confirmed) - pathogenic (recessive) g.12790510T>C g.12679696T>C - - DHPS_000001 - PubMed: Ganapathi 2019, Journal: Ganapathi 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - DD 30661771-Pat3 PubMed: Ganapathi 2019, Journal: Ganapathi 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Belgium/France (father), England/Ireland (mother) - - - - 1 Johan den Dunnen
+/. - c.518A>G r.(?) p.(Asn173Ser) Maternal (confirmed) - pathogenic (recessive) g.12790510T>C g.12679696T>C - - DHPS_000001 - PubMed: Ganapathi 2019, Journal: Ganapathi 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DD 30661771-Pat4 PubMed: Ganapathi 2019, Journal: Ganapathi 2019 2-generation family, 1 affected, unaffected non-carrier parents F no - France/Europe East;Ireland/England - - - - 1 Johan den Dunnen
+/. - c.518A>G r.(?) p.(Asn173Ser) Paternal (confirmed) - pathogenic (recessive) g.12790510T>C g.12679696T>C - - DHPS_000001 - PubMed: Ganapathi 2019, Journal: Ganapathi 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DD 30661771-Pat5 PubMed: Ganapathi 2019, Journal: Ganapathi 2019 2-generation family, 1 affected, unaffected non-carrier parents F no England;Slovakia (Slovak Republic) - - - - - 1 Johan den Dunnen
+/. - c.518A>G r.518a>g p.Asn173Ser Maternal (confirmed) - pathogenic (recessive) g.12790510T>C g.12679696T>C - - DHPS_000001 - PubMed: Ganapathi 2019, Journal: Ganapathi 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DD 30661771-Fam1Pat1/2 PubMed: Ganapathi 2019, Journal: Ganapathi 2019 2-generation family, affected sister/brother, unaffected non-carrier parents F;M no Ireland;Scotland;Sweden - - - - - 1 Johan den Dunnen
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