Full data view for gene POU4F3

Information The variants shown are described using the NM_002700.2 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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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.90C>T r.(?) p.(Ala30=) Unknown - benign g.145718765C>T g.146339202C>T - - POU4F3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.97C>T r.(?) p.(Arg33Ter) Unknown - pathogenic g.145718772C>T g.146339209C>T - - POU4F3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.103T>C r.(?) p.(Cys35Arg) Parent #1 - VUS g.145718778T>C g.146339215T>C - - POU4F3_000022 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.113C>A r.(?) p.(Ala38Asp) Unknown - likely benign g.145718788C>A - POU4F3(NM_002700.3):c.113C>A (p.(Ala38Asp)) - POU4F3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121-3C>T r.spl? p.? Unknown - VUS g.145719108C>T g.146339545C>T - - POU4F3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.192T>C r.(=) p.(=) Parent #1 - likely benign g.145719182T>C g.146339619T>C - - POU4F3_000023 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.282del r.(?) p.(Val95Cysfs*33) Unknown - pathogenic g.145719272del - - - POU4F3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352G>A r.(?) p.(Asp118Asn) Unknown ACMG VUS g.145719342G>A g.146339779G>A - - POU4F3_000038 ACMG PM2 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB376-728 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+?/. - c.374C>T r.(?) p.(Pro125Leu) Both (homozygous) ACMG likely pathogenic (recessive) g.145719364C>T g.146339801C>T - - POU4F3_000043 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1595 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.378G>A r.(?) p.(Thr126=) Unknown - likely benign g.145719368G>A g.146339805G>A POU4F3(NM_002700.3):c.378G>A (p.T126=) - POU4F3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.378G>T r.(=) p.(=) Parent #1 - likely benign g.145719368G>T g.146339805G>T - - POU4F3_000024 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 2 c.403C>T r.(?) p.(Pro135Ser) Parent #1 - VUS g.145719393C>T g.146339830C>T - - POU4F3_000025 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.416_419dup r.(?) p.(Met140Ilefs*33) Unknown - pathogenic g.145719406_145719409dup - - - POU4F3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462C>G r.(?) p.(His154Gln) Unknown - likely benign g.145719452C>G g.146339889C>G - - POU4F3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.490C>T r.(?) p.(Pro164Ser) Unknown - VUS g.145719480C>T g.146339917C>T - - POU4F3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.490C>T r.(?) p.(Pro164Ser) Parent #1 - VUS g.145719480C>T g.146339917C>T - - POU4F3_000020 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.491C>G r.(?) p.(Pro164Arg) Parent #1 - pathogenic g.145719481C>G g.146339918C>G - - POU4F3_000026 - MORL Deafness Variation Database, PubMed: Wei 2014 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Wei 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.491C>G r,(?) p.(Pro164Arg) Parent #1 - pathogenic (dominant) g.145719481C>G g.146339918C>G - - POU4F3_000026 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
?/? 2 c.491C>T r.(?) p.(Pro164Leu) Parent #1 - VUS g.145719481C>T g.146339918C>T - - POU4F3_000027 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.513C>A r.(?) p.(Ser171Arg) Unknown - likely benign g.145719503C>A g.146339940C>A - - POU4F3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.523G>T r.(?) p.(Ala175Ser) Unknown - VUS g.145719513G>T g.146339950G>T POU4F3(NM_002700.3):c.523G>T (p.A175S) - POU4F3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.524C>T r.(?) p.(Ala175Val) Unknown - VUS g.145719514C>T g.146339951C>T POU4F3(NM_002700.3):c.524C>T (p.A175V) - POU4F3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.556G>T r.(?) p.(Glu186Ter) Unknown - pathogenic g.145719546G>T g.146339983G>T POU4F3(NM_002700.3):c.556G>T (p.E186*) - POU4F3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.578G>C r.(?) p.(Arg193Pro) Unknown - VUS g.145719568G>C - - - POU4F3_000040 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.586C>T r.(?) p.(Gln196*) Paternal (confirmed) - pathogenic g.145719576C>T g.146340013C>T - - POU4F3_000004 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - gene panel deafness S1642 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/+ 2 c.606_607del r.(?) p.(Val203Aspfs*11) Parent #1 - pathogenic g.145719596_145719597del g.146340033_146340034del - - POU4F3_000028 - MORL Deafness Variation Database, PubMed: Yang 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Yang 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.613C>T r.(?) p.(Gln205Ter) Unknown - pathogenic g.145719603C>T g.146340040C>T - - POU4F3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.662_675del r.(?) p.(Gly221Glufs*77) Parent #1 - pathogenic g.145719652_145719665del g.146340089_146340102del - - POU4F3_000029 - MORL Deafness Variation Database, PubMed: Lee 2010 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Lee 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.665C>T r.(?) p.(Ser222Leu) Unknown - VUS g.145719655C>T g.146340092C>T - - POU4F3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.668T>C r.(?) p.(Leu223Pro) Parent #1 - likely pathogenic g.145719658T>C g.146340095T>C - - POU4F3_000002 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. - c.668T>C r.(?) p.(Leu223Pro) Unknown - pathogenic g.145719658T>C g.146340095T>C - - POU4F3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.668T>C r.(?) p.(Leu223Pro) Parent #1 - pathogenic g.145719658T>C g.146340095T>C - - POU4F3_000002 - MORL Deafness Variation Database, PubMed: Collin 2008, PubMed: Shearer 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Collin 2008, PubMed: Shearer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.694G>A r.(?) p.(Glu232Lys) Parent #1 - pathogenic g.145719684G>A g.146340121G>A - - POU4F3_000030 - MORL Deafness Variation Database, PubMed: Baek 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Baek 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.718A>G r.(?) p.(Asn240Asp) Unknown - pathogenic g.145719708A>G g.146340145A>G - - POU4F3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719A>G r.(?) p.(Asn240Ser) Unknown - VUS g.145719709A>G - - - POU4F3_000046 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719_721del r.(?) p.(Asn240del) Unknown - VUS g.145719709_145719711del g.146340146_146340148del - - POU4F3_000001 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+/+ 2 c.736C>A r.(?) p.(Pro246Thr) Parent #1 - pathogenic g.145719726C>A g.146340163C>A - - POU4F3_000031 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.743T>C r.(?) p.(Leu248Pro) Unknown ACMG VUS g.145719733T>C g.146340170T>C - - POU4F3_000037 ACMG PM2, PP3 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNA1 SB307-610 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+?/. - c.778C>T r.(?) p.(Arg260Ter) Unknown - likely pathogenic g.145719768C>T g.146340205C>T - - POU4F3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.828_829insT r.(?) p.(Lys277*) Parent #1 - likely pathogenic g.145719818_145719819insT g.146340255_146340256insT - - POU4F3_000003 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. - c.828_829insT r.(?) p.(Lys277Ter) Unknown - pathogenic g.145719818_145719819insT g.146340255_146340256insT - - POU4F3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.848C>T r.(?) p.(Ala283Val) Parent #1 - likely pathogenic g.145719838C>T g.146340275C>T - - POU4F3_000032 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Richards 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.865C>T r.(?) p.(Leu289Phe) Parent #1 - pathogenic g.145719855C>T g.146340292C>T - - POU4F3_000007 - MORL Deafness Variation Database, PubMed: Collin 2008, PubMed: Shearer 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Collin 2008, PubMed: Shearer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.879C>A r.(?) p.(Phe293Leu) Unknown ACMG VUS g.145719869C>A g.146340306C>A - - POU4F3_000039 ACMG PM2, PP3 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB438-852 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+/+ 2 c.882_889del r.(?) p.(Ile295Thrfs*5) Parent #1 - pathogenic g.145719872_145719879del g.146340309_146340316del - - POU4F3_000033 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Weiss 2003, PubMed: Vahava 1998, PubMed: Frenz 2008 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Weiss 2003, PubMed: Vahava 1998, PubMed: Frenz 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.896C>G r.(?) p.(Pro299Arg) Unknown - likely pathogenic g.145719886C>G - - - POU4F3_000041 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901T>A r.(?) p.(Ser301Thr) Unknown - VUS g.145719891T>A - POU4F3(NM_002700.3):c.901T>A (p.(Ser301Thr)) - POU4F3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.952G>A r.(?) p.(Val318Met) Unknown - likely pathogenic g.145719942G>A g.146340379G>A POU4F3(NM_002700.3):c.952G>A (p.V318M) - POU4F3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952G>A r.(?) p.(Val318Met) Unknown - VUS g.145719942G>A - POU4F3(NM_002700.3):c.952G>A (p.V318M) - POU4F3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952G>A r.(?) p.(Val318Met) Unknown ACMG VUS g.145719942G>A g.146340379G>A - - POU4F3_000008 ACMG PM2, PP3 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB347-679 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+?/. 2 c.965T>C r.(?) p.(Phe322Ser) Maternal (confirmed) - likely pathogenic g.145719955T>C g.146340392T>C - - POU4F3_000005 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - gene panel deafness S1547 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/+ 2 c.977G>A r.(?) p.(Arg326Lys) Parent #1 - pathogenic g.145719967G>A g.146340404G>A - - POU4F3_000034 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Kim 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Kim 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.982A>G r,(?) p.(Lys328Glu) Parent #1 - pathogenic (dominant) g.145719972A>G g.146340409A>G - - POU4F3_000047 - PubMed: Lin 2017, PubMed: Wu 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - 213-gene panel HL family PubMed: Lin 2017, PubMed: Wu 2019 3-generation family, 5 affected (4F, M) F;M - Taiwan - - - - - 5 Johan den Dunnen
+/+ 2 c.1007del r.(?) p.(Ala336Valfs*?) Parent #1 - pathogenic g.145719997del g.146340434del - - POU4F3_000035 - MORL Deafness Variation Database, PubMed: Mutai 2013 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Mutai 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
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