Full data view for gene POLR1D

Information The variants shown are described using the NM_015972.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.-186G>A r.(?) p.(=) Unknown - VUS g.28195935G>A - POLR1D(NM_001374407.1):c.-186G>A - LNX2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_2_ c.-205_*203{0} r.0 p.0 Unknown - pathogenic (dominant) g.(28155941_28189980)_(28346594_28400000)del g.(27581804_27615843)_(27772457_?)del - - POLR1D_000025 156-kb deletion extending from rs534150 to rs1231044 PubMed: Dauwerse 2011 - - De novo - - - - - DNA arraySNP - - TCS Lei1 PubMed: Dauwerse 2011 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - 1 Johan den Dunnen
+/. 2i c.26+1G>C r.spl p.? Unknown - pathogenic (dominant) g.28196147G>C g.27622010G>C - - POLR1D_000005 - PubMed: Dauwerse 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - TCS Man8 PubMed: Dauwerse 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.88_89dup r.(?) p.(Gln31Serfs*11) Maternal (confirmed) - pathogenic (dominant) g.28197073_28197074dup g.27622936_27622937dup 88_89insTG - POLR1D_000006 - PubMed: Dauwerse 2011 - - Germline yes - - - - DNA SEQ - - TCS Man15 PubMed: Dauwerse 2011 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - 2 Global Variome, with Curator vacancy
+/. 3 c.91C>T r.(?) p.(Gln31*) Unknown - pathogenic (dominant) g.28197076C>T g.27622939C>T - - POLR1D_000007 - PubMed: Dauwerse 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - TCS Nijm88 PubMed: Dauwerse 2011 - - - Netherlands - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.109dup r.(?) p.(Arg37Lysfs*45) Unknown - pathogenic g.28197094dup g.27622957dup 109dupA - POLR1D_000008 - PubMed: Dauwerse 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - TCS Man46 PubMed: Dauwerse 2011 - - - United Kingdom (Great Britain) - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.136G>T r.(?) p.(Glu46*) Parent #1 - pathogenic (dominant) g.28197121G>T g.27622984G>T - - POLR1D_000009 - PubMed: Dauwerse 2011 - - Germline - - - - - DNA SEQ - - TCS EsM10408 PubMed: Dauwerse 2011 - F - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.139G>A r.(?) p.(Glu47Lys) Parent #1 - pathogenic (dominant) g.28197124G>A g.27622987G>A - - POLR1D_000010 - PubMed: Dauwerse 2011 - - Germline/De novo (untested) yes - - - - DNA SEQ - - TCS EsM6195 PubMed: Dauwerse 2011 2-generation family, 2 affected brothers, unaffected parents M - - - - - - - 2 Global Variome, with Curator vacancy
+/. - c.139G>A r.(?) p.(Glu47Lys) Unknown - pathogenic (dominant) g.28197124G>A - - - POLR1D_000010 - PubMed: Dauwerse 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - TCS EsM7960 PubMed: Dauwerse 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.149C>T r.(?) p.(Thr50Ile) Unknown - pathogenic (dominant) g.28197134C>T g.27622997C>T - - POLR1D_000011 - PubMed: Dauwerse 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - TCS Man18 PubMed: Dauwerse 2011 - - - United Kingdom (Great Britain) - - - - - 1 Global Variome, with Curator vacancy
?/. - c.149C>T r.(?) p.(Thr50Ile) Unknown - VUS g.28197134C>T - - - POLR1D_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.152T>G r.(?) p.(Leu51Arg) Maternal (confirmed) - pathogenic (dominant) g.28197137T>G g.27623000T>G - - POLR1D_000012 - PubMed: Dauwerse 2011 - - Germline - - - - - DNA SEQ - - TCS EsM6227 PubMed: Dauwerse 2011 3-generation family, 3 affected (3F) F - - - - - - - 3 Global Variome, with Curator vacancy
+/. 3 c.155G>A r.(?) p.(Gly52Glu) Unknown - pathogenic (dominant) g.28197140G>A g.27623003G>A - - POLR1D_000013 - PubMed: Dauwerse 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - TCS Man12 PubMed: Dauwerse 2011 - - - United Kingdom (Great Britain) - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.163C>G r.(?) p.(Leu55Val) Parent #1 - pathogenic g.28197148C>G g.27623011C>G - - POLR1D_000014 - MORL Deafness Variation Database, PubMed: Schaefer 2014, PubMed: Katsanis 1993 - - SUMMARY record - - - - - DNA SEQ - - TCS - PubMed: Schaefer 2014, PubMed: Katsanis 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.166C>T r.(?) p.(Arg56Cys) Maternal (confirmed) - pathogenic (!) g.28197151C>T g.27623014C>T - - POLR1D_000015 unaffected carrier mother PubMed: Dauwerse 2011 - - Germline - - - - - DNA SEQ - - TCS EsM5850 PubMed: Dauwerse 2011 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.171C>A r.(?) p.(Tyr57*) Unknown - pathogenic (dominant) g.28197156C>A g.27623019C>A - - POLR1D_000016 - PubMed: Dauwerse 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - TCS Man38 PubMed: Dauwerse 2011 - - - United Kingdom (Great Britain) - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.211A>G r.(?) p.(Thr71Ala) Unknown - likely benign g.28197196A>G g.27623059A>G POLR1D(NM_015972.3):c.211A>G (p.T71A) - LNX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.232_233del r.(?) p.(Ser78Glnfs*3) Unknown - pathogenic (dominant) g.28197217_28197218del g.27623080_27623081del - - POLR1D_000017 - PubMed: Dauwerse 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - TCS EsM5513 PubMed: Dauwerse 2011 affected fetus - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.245T>C r.(?) p.(Leu82Ser) Maternal (confirmed) - pathogenic (!) g.28197230T>C g.27623093T>C - - POLR1D_000018 unaffected carrier mother PubMed: Dauwerse 2011 - - Germline - - - - - DNA SEQ - - TCS Man40 PubMed: Dauwerse 2011 3-generation family, affected daughter/grandmother, unaffected carrier mother F - United Kingdom (Great Britain) - - - - - 2 Global Variome, with Curator vacancy
+/. - c.259C>T r.(?) p.(Arg87Ter) Unknown - pathogenic g.28197244C>T g.27623107C>T POLR1D(NM_015972.4):c.259C>T (p.R87*) - POLR1D_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.259C>T r.(?) p.(Arg87*) Paternal (confirmed) - pathogenic (!) g.28197244C>T g.27623107C>T - - POLR1D_000026 3 unaffected male carriers PubMed: Dauwerse 2011 - - Germline - - - - - DNA SEQ - - TCS EsM42160 PubMed: Dauwerse 2011 3-generation family, 2 affected brothers, 3 unaafected male carriers M - - - - - - - 2 Global Variome, with Curator vacancy
+/. - c.259C>T r.(?) p.(Arg87*) Maternal (confirmed) - pathogenic (!) g.28197244C>T - - - POLR1D_000026 unaffected carrier female PubMed: Dauwerse 2011 - - Germline - - - - - DNA SEQ - - TCS Man33 PubMed: Dauwerse 2011 3-generation family, 3 affected (2F, M), unaffected carrier grandmother F - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. - c.259C>T r.(?) p.(Arg87*) Unknown - pathogenic (dominant) g.28197244C>T - - - POLR1D_000026 - PubMed: Dauwerse 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - TCS EsM11695 PubMed: Dauwerse 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.259C>T r.(?) p.(Arg87Ter) Paternal (confirmed) - pathogenic (dominant) g.28197244C>T g.27623107C>T - - POLR1D_000026 - PubMed: Imafidon 2021 - - Germline - - - - - DNA SEQ-NG - gene panel ? Pat544 PubMed: Imafidon 2021 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 3 c.263dup r.(?) p.(Thr89Tyrfs*6) Paternal (confirmed) - pathogenic (dominant) g.28197248dup g.27623111dup 263dupG - POLR1D_000019 - PubMed: Dauwerse 2011 - - Germline yes - - - - DNA SEQ - - TCS Man24 PubMed: Dauwerse 2011 2-generation family, affected father/daughter F - (United Kingdom (Great Britain)) - - - - - 2 Global Variome, with Curator vacancy
+/. 3 c.295G>A r.(?) p.(Gly99Ser) Unknown - pathogenic (dominant) g.28197280G>A g.27623143G>A 295A>G (Gly99Ser) - POLR1D_000020 - MORL Deafness Variation Database, PubMed: Dauwerse 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - TCS EsM9491 PubMed: Dauwerse 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.326_327del r.(?) p.(His109Argfs*3) Paternal (confirmed) - pathogenic g.28197311_28197312del g.27623174_27623175del 326-327del - POLR1D_000021 - PubMed: Dauwerse 2011 - - Germline yes - - - - DNA SEQ - - TCS EsM3422 PubMed: Dauwerse 2011 3-generation family, 3 affected M - - - - - - - 3 Global Variome, with Curator vacancy
-?/. - c.329T>C r.(?) p.(Val110Ala) Unknown - likely benign g.28197314T>C - POLR1D(NM_015972.4):c.329T>C (p.(Val110Ala)) - LNX2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.332T>C r.(?) p.(Leu111Pro) Parent #1 - pathogenic g.28197317T>C g.27623180T>C - - POLR1D_000022 - MORL Deafness Variation Database, PubMed: Giampietro 2015 - - SUMMARY record - - - - - DNA SEQ - - ? - PubMed: Giampietro 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.*30C>A r.(=) p.(=) Parent #1 - likely benign g.28197417C>A g.27623280C>A - - POLR1D_000023 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs8459 Germline - 15/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
-/. - c.*49C>T r.(=) p.(=) Unknown - benign g.28197436C>T g.27623299C>T - - POLR1D_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*25126C>T r.(=) p.(=) Unknown - likely benign g.28222513C>T g.27648376C>T POLR1D(NM_001206559.1):c.-58-3C>T - POLR1D_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*25156G>A r.(=) p.(=) Unknown - likely benign g.28222543G>A - POLR1D(NM_152705.2):c.54G>A (p.E18=) - POLR1D_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*42557A>G r.(=) p.(=) Unknown - VUS g.28239944A>G g.27665807A>G POLR1D(NM_001206559.1):c.139A>G (p.(Ser47Gly)) - POLR1D_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*42612A>G r.(=) p.(=) Unknown - likely benign g.28239999A>G g.27665862A>G POLR1D(NM_001206559.1):c.194A>G (p.(His65Arg)), POLR1D(NM_001206559.2):c.194A>G (p.H65R) - POLR1D_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*42612A>G r.(=) p.(=) Unknown - likely benign g.28239999A>G g.27665862A>G POLR1D(NM_001206559.1):c.194A>G (p.(His65Arg)), POLR1D(NM_001206559.2):c.194A>G (p.H65R) - POLR1D_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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