Full data view for gene PTPRQ

Information The variants shown are described using the NM_001145026.2 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.? r.? p.? Unknown - likely pathogenic g.? - 6177A>G (Ile2207Val) - PTPRQ_000000 - - - - Germline - - - - - DNA SEQ-NG-I - - CRC - - - - - - - - - - - 1 Jessada Thutkawkorapin
+/. - c.? r.? p.? Both (homozygous) ACMG pathogenic (recessive) g.? - 552delC (D184fs) - PTPRQ_000000 - PubMed: Sang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HL FamHL1222 PubMed: Sang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. - p.(Tyr30Ter) r.(?) p.(Tyr30Ter) Parent #1 - pathogenic (recessive) g.80838556C>A g.80444776C>A - - PTPRQ_000100 - PubMed: Qin 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL FamPat1/2 PubMed: Qin 2023 2-generation family, 2 affected sisters, unaffected heterozygous parents F - China - - - - - 1 Johan den Dunnen
+/. - c.21dup r.(?) p.(Leu8SerfsTer13) Paternal (confirmed) - pathogenic (recessive) g.80838146dup g.80444366dup 16_17insT - PTPRQ_000108 - PubMed: Sang 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL family PubMed: Sang 2015 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents F;M - China Kazakh - - - - 1 Johan den Dunnen
+/. - c.54+3A>G r.spl? p.? Parent #1 - pathogenic (recessive) g.80838182A>G g.80444402A>G - - PTPRQ_000072 - PubMed: Sloan-Heggen 2016 - - Germline - - - - - DNA SEQ - - deafness Pat257 PubMed: Sloan-Heggen 2016 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. - c.55-2A>G r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.80838519A>G g.80444739A>G - - PTPRQ_000114 ACMG PVS1, PM2, PP3, PP5 PubMed: Mahmood 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL GCFHL-01 PubMed: Mahmood 2021 5-generation family, 5 affected (F, 4M), unaffected heterozygous parents/relatives F;M yes Pakistan Punjab - - - - 1 Johan den Dunnen
+/. - c.166C>G r.(?) p.(Pro56Ala) Maternal (inferred) - pathogenic (recessive) g.80839273C>G g.80445493C>G - - PTPRQ_000103 - PubMed: Sakuma 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - HL SNS2193-Pat2 PubMed: Sakuma 2015 2-generation family, 1 affected, unaffected heterozygous parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.189del r.(?) p.(Glu65LysfsTer95) Both (homozygous) - pathogenic (recessive) g.80839296del g.80445516del 189delC - PTPRQ_000129 - PubMed: Naz 2017 - rs773511370 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLRB4 PubMed: Naz 2017 family, 3 affected - - Pakistan Punjab - - - - 3 Johan den Dunnen
+/. - c.202G>A r.(?) p.(Gly68Arg) Parent #1 - pathogenic (recessive) g.80839309G>A g.80445529G>A - - PTPRQ_000045 - PubMed: Sloan-Heggen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL Pat260 PubMed: Sloan-Heggen 2016 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.250G>A r.(?) p.(Gly84Arg) Unknown - VUS g.80839357G>A g.80445577G>A - - PTPRQ_000092 - - - rs866361668 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.293C>T r.(?) p.(Pro98Leu) Unknown - likely pathogenic g.80839400C>T g.80445620C>T - - PTPRQ_000040 - - - - Germline - - - - - DNA SEQ-NG-I - - CRC - - - - - - - - - - - 1 Jessada Thutkawkorapin
-?/. - c.329A>G r.(?) p.(Lys110Arg) Unknown - likely benign g.80839436A>G g.80445656A>G - - PTPRQ_000087 - - - rs756626854 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.715A>G r.(?) p.(Arg239Gly) Both (homozygous) - pathogenic (recessive) g.80849470T>C g.80460707A>G 1369A>G (Arg457Gly) - PTPRQ_000001 variants in paper are based on splice variant III PubMed: Schraders 2010, OMIM:var0002 - rs281865414 Germline yes - - - - DNA SEQ - - DFNB;ARNSHL - PubMed: Schraders 2010 2-generation family, 2 affected sisters, both children exhibit moderate hearing loss M yes Morocco Moroccan - - - - 2 Johan den Dunnen
+/. - c.800del r.(?) p.(Ser267IlefsTer3) Unknown ACMG likely pathogenic (dominant) g.80849320_80849321= g.80460792del 800delG (Thr267fs) - PTPRQ_000088 - PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNA1 - PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+/. - c.837T>A r.(?) p.(Tyr279Ter) Both (homozygous) - pathogenic (recessive) g.80849355A>T g.80460829T>A 1491T>A (Tyr497X) - PTPRQ_000002 variants in paper are based on splice variant III; common ancestor of parents PubMed: Schraders 2010, OMIM:var0001 - rs183258549 Germline yes - - - - DNA SEQ - - DFNB;ARNSHL - PubMed: Schraders 2010 3-generation family, 2 affected brothers F no Netherlands Dutch - - - - 2 Johan den Dunnen
+/. - c.962C>G r.(?) p.(Ser321Cys) Unknown - VUS g.80862540C>G g.80468761C>G - - PTPRQ_000128 - PubMed: Boucher 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - Healthy/Control CIC4042 PubMed: Boucher 2020 control - - France - - - - - 1 Johan den Dunnen
+/. - c.977G>A r.(?) p.(Trp326Ter) Maternal (confirmed) - pathogenic (recessive) g.80862555G>A g.80468776G>A 997G>A - PTPRQ_000116 - PubMed: Jin 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - - HL family PubMed: Jin 2022 2-generation family, affected sister/brother, unaffected heterozygous parents F;M - China - - - - - 1 Johan den Dunnen
+/. - c.1069del r.(?) p.(Leu357SerfsTer8) Both (homozygous) - pathogenic (recessive) g.80472134del g.80865913del 1057_1057delC - PTPRQ_000113 - PubMed: Yang 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL FamPatII2/II3 PubMed: Yang 2021 3-generation family, 4 affected (2F, 2M), segregating 2 different diseases; affected brother/sister F;M yes - China-S;Wuling Mountains - - - - 4 Johan den Dunnen
+/. - c.1096C>A r.(?) p.(Pro366Thr) Parent #2 - pathogenic (recessive) g.80865940C>A g.80472161C>A - - PTPRQ_000130 - PubMed: Sloan-Heggen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL Pat260 PubMed: Sloan-Heggen 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1135A>C r.(?) p.(Ser379Arg) Parent #1 - pathogenic (recessive) g.80865979A>C g.80472200A>C - - PTPRQ_000118 - PubMed: Sloan-Heggen 2016 - - Germline - - - - - DNA ? - - deafness Pat258 PubMed: Sloan-Heggen 2016 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.1148G>A r.(?) p.(Gly383Glu) Unknown - likely pathogenic (dominant) g.80865992G>A g.80472213G>A - - PTPRQ_000127 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL PAR031 PubMed: Boucher 2020 family, 2 affected - - France - - - - - 2 Johan den Dunnen
-?/. - c.1233G>A r.(?) p.(Thr411=) Unknown - likely benign g.80878258G>A - PTPRQ(NM_001145026.2):c.777G>A (p.(Thr259Thr)) - PTPRQ_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1261C>T r.(?) p.(Arg421Ter) Both (homozygous) - pathogenic (recessive) g.80878286C>T g.80484507C>T - - PTPRQ_000102 - PubMed: Sakuma 2015 - - Germline - - - - - DNA SEQ - - HL AG8960-Pat1 PubMed: Sakuma 2015 2-generation family, 1 affected, unaffected heterozygous parents M - Japan - - - - - 1 Johan den Dunnen
+/. - c.1261C>T r.(?) p.(Arg421Ter) Paternal (confirmed) - pathogenic (recessive) g.80878286C>T g.80484507C>T - - PTPRQ_000102 - PubMed: Sakuma 2015 - - Germline - - - - - DNA SEQ - - HL SNS2193-Pat2 PubMed: Sakuma 2015 2-generation family, 1 affected, unaffected heterozygous parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.1285C>T r.(?) p.(Gln429Ter) Both (homozygous) - pathogenic (recessive) g.80878310C>T g.80484531C>T 1285C>T - PTPRQ_000006 - PubMed: Shahin 2010 - - Germline yes - - - - DNA SEQ - - DFNB family PubMed: Shahin 2010 6-generation family, 5 affected (3F, 2M), unaffected heterozygous parents/relatives F;M yes Israel Palestine - - - - 1 Johan den Dunnen
+/. - c.1359+2T>C r.spl p.? Parent #2 - pathogenic (recessive) g.80878386T>C g.80484607T>C - - PTPRQ_000073 - PubMed: Sloan-Heggen 2016 - - Germline - - - - - DNA SEQ - - deafness Pat257 PubMed: Sloan-Heggen 2016 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2489T>C r.(?) p.(Val830Ala) Paternal (confirmed) - pathogenic (recessive) g.80900381T>C g.80506602T>C 1973T>C (V658A) - PTPRQ_000111 - PubMed: Wu 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HL family PubMed: Wu 2018 2-generation family, 1 affected, unaffected heterozygous parents/relatives F - China - - - - - 1 Johan den Dunnen
+?/. - c.2521C>T r.(?) p.(Arg841Trp) Unknown - likely pathogenic (dominant) g.80900413C>T g.80506634C>T - - PTPRQ_000126 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL PAR125 PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
+/. - c.2599T>C r.(?) p.(Ser867Pro) Paternal (confirmed) - pathogenic (recessive) g.80904143T>C g.80510364T>C - - PTPRQ_000112 - PubMed: Talebi 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL patient PubMed: Talebi 2018 2-generation family, 1 affected, unaffected heterozygous parents (first cousin)/relatives M yes Iran - - - - - 1 Johan den Dunnen
+?/. - c.2636del r.(?) p.(Leu879ArgfsTer20) Unknown - likely pathogenic (dominant) g.80904180del g.80510401del - - PTPRQ_000125 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL B00APFU PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
+/. - c.2726del r.(?) p.(Glu909GlyfsTer15) Maternal (inferred) - pathogenic (recessive) g.80927841del g.80534062del 2714delA - PTPRQ_000107 - PubMed: Sang 2015 - - Germline/De novo (untested) yes - - - - DNA SEQ, SEQ-NG - WES HL family PubMed: Sang 2015 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents F;M - China Kazakh - - - - 1 Johan den Dunnen
+/. - c.2939A>C r.(?) p.(Gln980Pro) Parent #2 - pathogenic (recessive) g.80928770A>C g.80534991A>C - - PTPRQ_000119 - PubMed: Sloan-Heggen 2016 - - Germline - - - - - DNA ? - - deafness Pat258 PubMed: Sloan-Heggen 2016 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.3066C>A r.(?) p.(Ser1022Arg) Unknown - likely pathogenic (dominant) g.80933635C>A g.80539856C>A - - PTPRQ_000124 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL 3961 PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
+/. - c.3125A>G r.(?) p.(Asp1042Gly) Maternal (confirmed) - pathogenic (recessive) g.80933694A>G g.80539915A>G - - PTPRQ_000093 2/656 control chromosomes PubMed: Gao 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL Fam1572 PubMed: Gao 2015 2-generation family, 2 affected brothers, unaffected heterozygous parents M - China - - - - - 2 Johan den Dunnen
+/. - c.4006C>T r.(?) p.(Gln1336Ter) Both (homozygous) - pathogenic (recessive) g.80940467C>T g.80546688C>T - - PTPRQ_000115 - PubMed: Vanniya 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL DXNCHE29 PubMed: Vanniya 2022 2-generation family, affected father/daughter/son, unaffected heterozygous carrier mother F;M yes India - - - - - 3 Johan den Dunnen
?/. - c.4027G>A r.(?) p.(Val1343Met) Unknown - VUS g.80943255G>A - - - PTPRQ_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4046T>C r.(?) p.(Met1349Thr) Maternal (confirmed) - pathogenic (recessive) g.80943274T>C g.80549495T>C - - PTPRQ_000104 - PubMed: Sakuma 2015 - - Germline - - - - - DNA SEQ - - HL SNS2912-Pat3 PubMed: Sakuma 2015 2-generation family, 2 affected twin sisters, unaffected heterozygous parents F - Japan - - - - - 2 Johan den Dunnen
?/. - c.4080G>A r.(?) p.(Trp1360*) Unknown - VUS g.80943308G>A - PTPRQ(NM_001145026.2):c.3624G>A (p.(Trp1208*)) - PTPRQ_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4168A>G r.(?) p.(Met1390Val) Unknown - likely benign g.80943396A>G g.80549617A>G - - PTPRQ_000086 - - - rs757316770 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4173C>A r.(?) p.(Tyr1391Ter) Parent #1 - pathogenic (recessive) g.80943401C>A g.80549622C>A - - PTPRQ_000120 - PubMed: Sloan-Heggen 2016 - - Germline - - - - - DNA ? - - deafness Pat259 PubMed: Sloan-Heggen 2016 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.4286-1G>T r.spl p.? Unknown - likely pathogenic (dominant) g.80981907G>T g.80588128G>T - - PTPRQ_000123 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL 4392 PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
?/. - c.4646C>T r.(?) p.(Ala1549Val) Unknown - VUS g.80998874C>T - - - PTPRQ_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4826del r.(?) p.(Ser1609LeufsTer2) Parent #2 - pathogenic (recessive) g.81004312del g.80610533del 4826delC - PTPRQ_000121 - PubMed: Sloan-Heggen 2016 - - Germline - - - - - DNA ? - - deafness Pat259 PubMed: Sloan-Heggen 2016 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4988C>T r.(?) p.(Thr1663Met) Maternal (confirmed) - pathogenic (recessive) g.81007440C>T g.80613661C>T 4472C>T (T1491M) - PTPRQ_000110 - PubMed: Wu 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HL family PubMed: Wu 2018 2-generation family, 1 affected, unaffected heterozygous parents/relatives F - China - - - - - 1 Johan den Dunnen
-/. - c.5075T>C r.(?) p.(Ile1692Thr) Parent #1 - benign g.81007527T>C g.80613748T>C - - PTPRQ_000057 50 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7963963 Germline - 50/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 50 Mohammed Faruq
+/. - c.5158_5159del r.(?) p.(Ile1720GlnfsTer7) Both (homozygous) ACMG pathogenic (recessive) g.81007610_81007611del g.80613831_80613832del 5158_5159delAT - PTPRQ_000122 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4437 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.5686+5G>C r.spl? p.? Unknown - VUS g.81015918G>C - PTPRQ(NM_001145026.1):c.5686+5G>C - PTPRQ_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5739T>A r.(?) p.(Cys1913*) Unknown - pathogenic g.81026023T>A - PTPRQ(NM_001145026.1):c.5739T>A (p.C1913*) - PTPRQ_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 36i c.5942+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.81042703G>A g.80648924G>A c.5426 +1G>A - PTPRQ_000101 - PubMed: Qin 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL FamPat1/2 PubMed: Qin 2023 2-generation family, 2 affected sisters, unaffected heterozygous parents F - China - - - - - 1 Johan den Dunnen
+/. - c.5942+1G>A r.5942_5943ins[a;5942+2_5943-1] p.? Paternal (confirmed) - likely pathogenic (recessive) g.81042703G>A g.80648924G>A 5426+1G>A - PTPRQ_000101 effect on splicing predicted from mini-gene splicing assay PubMed: Chen 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL FamE PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.5981A>G r.(?) p.(Glu1994Gly) Paternal (confirmed) - pathogenic (recessive) g.81043405A>G g.80649626A>G - - PTPRQ_000106 not in 656 control chromosomes PubMed: Gao 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL Fam1572 PubMed: Gao 2015 2-generation family, 2 affected brothers, unaffected heterozygous parents M - China - - - - - 2 Johan den Dunnen
+/. - c.6080dup r.(?) p.(Asn2027LysfsTer2) Both (homozygous) - pathogenic (recessive) g.81046578dup g.80652799dup - - PTPRQ_000109 - PubMed: Ammar-Khodja 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - HL Fam8 PubMed: Ammar-Khodja 2015 4-generation family, 4 affected (F, 3M), unaffected heterozygous parents F;M yes Algeria - - - - - 4 Johan den Dunnen
+/. - c.6453+12del r.spl? p.? Paternal (confirmed) - pathogenic (!) g.81063255del g.80669476del 6453+3delA - PTPRQ_000105 no proof pathogenicity given PubMed: Sakuma 2015 - - Germline - - - - - DNA SEQ - - HL SNS2912-Pat3 PubMed: Sakuma 2015 2-generation family, 2 affected twin sisters, unaffected heterozygous parents F - Japan - - - - - 2 Johan den Dunnen
+/. - c.6603-3T>G r.spl? p.? Paternal (confirmed) - pathogenic (recessive) g.81066945T>G g.80673166T>G 6603-3T>G - PTPRQ_000117 - PubMed: Jin 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - - HL family PubMed: Jin 2022 2-generation family, affected sister/brother, unaffected heterozygous parents F;M - China - - - - - 1 Johan den Dunnen
+/. - c.6603-3T>G r.(6603_6738del) p.(Ser2201fs) Maternal (confirmed) - VUS g.81066945T>G g.80673166T>G c.6087-3T>G - PTPRQ_000117 effect on RNA predicted from mini-gene splicing assay PubMed: Chen 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL FamE PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
?/. - c.6680A>G r.(?) p.(Asp2227Gly) Unknown - VUS g.81067025A>G - - - PTPRQ_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6739-1G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.81072380G>A g.80678601G>A - - PTPRQ_000039 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4123 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.6870T>A r.(?) p.(Val2290=) Unknown - likely benign g.81072772T>A - PTPRQ(NM_001145026.1):c.6870T>A (p.V2290=) - PTPRQ_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6881G>A r.(?) p.(Trp2294*) Maternal (confirmed) - pathogenic (dominant) g.81072783G>A g.80679004G>A - - PTPRQ_000003 - PubMed: Eisenberger 2018 - - Germline yes - - - - DNA SEQ-NG-I - - DFNA FamPatIV2 PubMed: Eisenberger 2018 4-generation family, 8 affected (4F, 4M) M no Germany white - - - - 8 Hanno Bolz
+/. - c.6881G>A r.(?) p.(Trp2294Ter) Parent #1 - pathogenic (dominant) g.81072783G>A g.80679004G>A - - PTPRQ_000003 - PubMed: Ozieblo 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - DFNA family PubMed: Ozieblo 2019 5-generation family, 13 affected (5F, 8M) F;M - Poland - - - - - 13 Johan den Dunnen
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