Full data view for gene PKHD1

Information The variants shown are described using the NM_138694.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

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.9866G>T r.(?) p.(Ser3289Ile) Unknown - VUS g.51611651C>A g.51746853C>A - - PKHD1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.9866G>T r.(?) p.(Ser3289Ile) Unknown - VUS g.51611651C>A g.51746853C>A - - PKHD1_000004 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.9866G>T r.(?) p.(Ser3289Ile) Unknown - VUS g.51611651C>A g.51746853C>A - - PKHD1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. 59 c.9866G>T r.(?) p.(Ser3289Ile) Parent #1 - benign g.51611651C>A g.51746853C>A 0 - PKHD1_000004 - PubMed: Sharp 2005 - rs148932323 Unknown - - - 0 - DNA SEQ - - PKD - PubMed: Sharp 2005 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.9866G>T r.(?) p.(Ser3289Ile) Unknown - VUS g.51611651C>A g.51746853C>A PKHD1(NM_138694.3):c.9866G>T (p.S3289I) - PKHD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9866G>T r.(?) p.(Ser3289Ile) Unknown - likely benign g.51611651C>A g.51746853C>A PKHD1(NM_138694.3):c.9866G>T (p.S3289I) - PKHD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query