Full data view for gene PKHD1

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

38 entries on 1 page. Showing entries 1 - 38.
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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     
+?/. 3 c.107C>T r.(?) p.(Thr36Met) Parent #1 - likely pathogenic g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Ward 2002 - rs137852944 Unknown - - - - - DNA SEQ - - PKD - PubMed: Ward 2002 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 - likely pathogenic (recessive) g.51947999G>A - - - PKHD1_000018 - PubMed: Furu 2003 - - Germline - - - - - DNA SEQ - - PKD 371/1535 PubMed: Furu 2003 - - - Austria - - - - - 1 Johan den Dunnen
+/. - c.107C>T r.(?) p.(Thr36Met) Unknown - pathogenic g.51947999G>A g.52083201G>A PKHD1(NM_138694.3):c.107C>T (p.(Thr36Met)), PKHD1(NM_138694.4):c.107C>T (p.T36M) - PKHD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.107C>T r.(?) p.(Thr36Met) Unknown - pathogenic g.51947999G>A g.52083201G>A PKHD1(NM_138694.3):c.107C>T (p.(Thr36Met)), PKHD1(NM_138694.4):c.107C>T (p.T36M) - PKHD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.107C>T r.(?) p.(Thr36Met) Unknown - likely pathogenic g.51947999G>A g.52083201G>A PKHD1(NM_138694.3):c.107C>T (p.(Thr36Met)), PKHD1(NM_138694.4):c.107C>T (p.T36M) - PKHD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) - pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - - - - Germline yes - - - - DNA PCR - - PKD4 SAYER - - M yes Oman - >00y01m - - - 1 John Sayer
+/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P3 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - M - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P6 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - M - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P8 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 3-generation family, 1 affected, unaffected parents F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P9 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - M - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P11 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P16 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P25 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P26 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P27 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 4-generation family, 4 affected sibs, unaffected parents M yes Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P28 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P29 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P38 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A Fig3 406G>A (Thr136Ala) - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P44 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 3-generation family, 1 affected, unaffected parents M - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Both (homozygous) ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P52 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - M - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P53 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 3-generation family, affected brother/sister, unaffected parents M - Oman - - - - - 2 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Parent #2 ACMG pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs137852944 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P5 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+/. - c.107C>T r.(?) p.(Thr36Met) Unknown - pathogenic g.51947999G>A - PKHD1(NM_138694.3):c.107C>T (p.(Thr36Met)), PKHD1(NM_138694.4):c.107C>T (p.T36M) - PKHD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.107C>T r.(?) p.(Thr36Met) Unknown - pathogenic g.51947999G>A - PKHD1(NM_138694.3):c.107C>T (p.(Thr36Met)), PKHD1(NM_138694.4):c.107C>T (p.T36M) - PKHD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.107C>T r.(?) p.(Thr36Met) Paternal (confirmed) - likely pathogenic (recessive) g.51947999G>A - - - PKHD1_000018 - 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.107C>T r.(?) p.(Thr36Met) Parent #2 - likely pathogenic (recessive) g.51947999G>A - - - PKHD1_000018 - PubMed: Furu 2003 - - Germline - - - - - DNA SEQ - - PKD 313/1289 PubMed: Furu 2003 - - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 - likely pathogenic (recessive) g.51947999G>A - - - PKHD1_000018 - PubMed: Furu 2003 - - Germline - - - - - DNA SEQ - - PKD AL24 PubMed: Furu 2003 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 - likely pathogenic g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Furu 2003 - - Germline - - - - - DNA SEQ - - PKD AL7 PubMed: Furu 2003 - - - United States white - - - - 1 Johan den Dunnen
+?/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 - likely pathogenic g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Furu 2003 - - Germline - - - - - DNA SEQ - - PKD AL13 PubMed: Furu 2003 - - - United States white - - - - 1 Johan den Dunnen
+?/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 - likely pathogenic g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Furu 2003 - - Germline - - - - - DNA SEQ - - PKD 167/704 PubMed: Furu 2003 - - - Germany;Romania - - - - - 1 Johan den Dunnen
+?/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 - likely pathogenic g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Furu 2003 - - Germline - - - - - DNA SEQ - - PKD 338/1389 PubMed: Furu 2003 - - - England;Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.107C>T r.(?) p.(Thr36Met) Parent #1 - likely pathogenic g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Furu 2003 - - Germline - - - - - DNA SEQ - - PKD 163/699 PubMed: Furu 2003 - - - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.107C>T r.(?) p.(Thr36Met) Paternal (confirmed) - pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Bergmann 2003 - - Germline yes - - - - DNA SEQ - - PKD Fam118Pat1 PubMed: Bergmann 2003, PubMed: Bergmann 2005 - F - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.107C>T r.(?) p.(Thr36Met) Both (homozygous) - pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Bergmann 2003, PubMed: Bergmann 2005 - - Germline yes - - - - DNA SEQ - - PKD Fam2Pat1 PubMed: Bergmann 2003, PubMed: Bergmann 2005 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Finland - <00y00m00d - - - 2 Johan den Dunnen
+/. 3 c.107C>T r.(?) p.(Thr36Met) Both (homozygous) - pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Bergmann 2003, PubMed: Bergmann 2005 - - Germline yes - - - - DNA SEQ - - PKD Fam2Pat2 PubMed: Bergmann 2003, PubMed: Bergmann 2005 sister F - Finland - 05y - - - 1 Johan den Dunnen
+/. 3 c.107C>T r.(?) p.(Thr36Met) Paternal (confirmed) - pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Bergmann 2003 - - Germline yes - - - - DNA PCRq, SEQ - - PKD Fam27Pat1 PubMed: Bergmann 2003, PubMed: Bergmann 2005, PubMed: Bergmann 2005 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Germany - 14y - - - 2 Johan den Dunnen
+/. 3 c.107C>T r.(?) p.(Thr36Met) Paternal (confirmed) - pathogenic (recessive) g.51947999G>A g.52083201G>A - - PKHD1_000018 - PubMed: Bergmann 2003 - - Germline yes - - - - DNA PCRq, SEQ - - PKD Fam27Pat2 PubMed: Bergmann 2003, PubMed: Bergmann 2005, PubMed: Bergmann 2005 sister F - Germany - 03y - - - 1 Johan den Dunnen
+/. 3 c.107C>T r.(?) p.(Thr36Met) Paternal (confirmed) - pathogenic (recessive) g.51947999G>A g.52083201G>A T36M - PKHD1_000018 - PubMed: Bergmann 2003 - - Germline - - - - - DNA DHPLC, SEQ - - PKD Fam1 PubMed: Bergmann 2003 family, 2 affected sibs (F, M) F;M - Finland - - - - - 2 Johan den Dunnen
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