Full data view for gene PKHD1

Information The variants shown are described using the NM_138694.3 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     
-?/. 9 c.664A>G r.(?) p.(Ile222Val) Parent #1 - likely benign g.51935807T>C g.52071009T>C - - PKHD1_000012 - PubMed: Ward 2002 - - Unknown - - - - - DNA SEQ - - PKD - PubMed: Ward 2002 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.664A>G r.(?) p.(Ile222Val) Maternal (confirmed) - likely pathogenic (recessive) g.51935807T>C - - - PKHD1_000012 - PubMed: Onuchic 2002 - - Germline - - - - - DNA SEQ - - PKD Pat1AL1 PubMed: Onuchic 2002 2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents F - United States - - - - - 4 Johan den Dunnen
+?/. - c.664A>G r.(?) p.(Ile222Val) Maternal (confirmed) - likely pathogenic (recessive) g.51935807T>C - - - PKHD1_000012 - PubMed: Onuchic 2002 - - Germline - - - - - DNA SEQ - - PKD PatAL18 PubMed: Onuchic 2002 - - - South Africa Afrikaner - - - - 1 Johan den Dunnen
+/. 9 c.664A>G r.(?) p.(Ile222Val) Maternal (confirmed) - pathogenic (recessive) g.51935807T>C g.52071009T>C - - PKHD1_000012 - PubMed: Bergmann 2003, PubMed: Bergmann 2005 - - Germline yes - - - - DNA SEQ - - PKD Fam105 PubMed: Bergmann 2003, PubMed: Bergmann 2005 family, 3 affected sibs (2F, M) F;M - Italy - - - - - 3 Johan den Dunnen
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