Unique variants in the FKBP10 gene


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_021939.3 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+ 1 4i_10_ c.727+102_*809{0} r.? p.? - pathogenic g.39974881_39980318del - - - FKBP10_000045 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+/+ 1 1 c.14del r.(?) p.(Gly5Alafs*154) - pathogenic g.39969300del g.41813048del 14delG - FKBP10_000020 - PubMed: Schwarze 2013 - - Germline - - - - - Peter Byers
+/+ 2 1 c.21dup r.(?) p.(Ser8Glnfs*67) - pathogenic g.39969307dup - 21dupC - FKBP10_000015 - PubMed: Caparrós-Martin 2013, PubMed: Trancozo 2019 - - Germline - - - - - Raymond Dalgleish, Victor L Ruiz-Perez
?/. 1 - c.106C>A r.(?) p.(Pro36Thr) - VUS g.39969392C>A g.41813140C>A FKBP10(NM_021939.3):c.106C>A (p.P36T) - FKBP10_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 1 c.122_156del r.(?) p.(Leu41Glnfs*22) - pathogenic g.39969408_39969442del - - - FKBP10_000007 - PubMed: Kelley 2011 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.172G>A r.(?) p.(Glu58Lys) - likely benign g.39969458G>A g.41813206G>A FKBP10(NM_021939.3):c.172G>A (p.(Glu58Lys)) - FKBP10_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 1 c.179A>C r.(?) p.(Gln60Pro) - pathogenic g.39969465A>C - - - FKBP10_000054 - PubMed: Trancozo 2019 - - Germline - - - - - Raymond Dalgleish
+/+ 1 1 c.204delinsAAA r.(?) p.(His68Glnfs*92) - pathogenic g.39969490delinsAAA - - - FKBP10_000028 - PubMed: Moravej 2015 - - Germline - - - - - Raymond Dalgleish
?/. 1 - c.210C>G r.(?) p.(Asn70Lys) - VUS g.39969496C>G g.41813244C>G FKBP10(NM_021939.3):c.210C>G (p.N70K) - FKBP10_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.245+18C>T r.(=) p.(=) - benign g.39969549C>T g.41813297C>T FKBP10(NM_021939.3):c.245+18C>T - FKBP10_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.246-283T>A r.(=) p.(=) - likely benign g.39973027T>A - FKBP10(NM_021939.3):c.246-283T>A - FKBP10_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.246-5C>G r.spl? p.? - likely benign g.39973305C>G g.41817053C>G FKBP10(NM_021939.3):c.246-5C>G - FKBP10_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 2 c.288dup r.(?) p.(Arg97Alafs*101) - pathogenic g.39973352dup - 288dupG - FKBP10_000021 - PubMed: Schwarze 2013 - - Germline - - - - - Peter Byers
+/+, +?/. 2 2 c.310C>T r.(?) p.(Arg104*), p.(Arg104Ter) - likely pathogenic, pathogenic g.39973374C>T - FKBP10(NM_021939.3):c.310C>T (p.(Arg104Ter)) - FKBP10_000037 VKGL data sharing initiative Nederland PubMed: Caparros-Martin 2016 - - CLASSIFICATION record, Germline - - - - - Raymond Dalgleish, VKGL-NL_Leiden
+/+ 1 2 c.321_353del r.(?) p.(Met107_Leu117del) - pathogenic g.39973385_39973417del - - - FKBP10_000001 - PubMed: Alanay 2010 - - Germline - - - - - Peter Byers
+/+, +/. 3 2 c.337G>A r.(?) p.(Glu113Lys) - pathogenic, pathogenic (recessive) g.39973401G>A g.41817149G>A NM_021939.3:c.337G>A:p.(Glu113Lys) - FKBP10_000022 - PubMed: Maddirevula 2018, PubMed: Schwarze 2013 - - Germline - - - - - Peter Byers
+/+, +/., +/? 4 2 c.343C>T r.(?) p.(Arg115*), p.(Arg115Ter) - pathogenic, pathogenic (recessive) g.39973407C>T g.41817155C>T FKBP10(NM_021939.3):c.343C>T (p.R115*) - FKBP10_000033 VKGL data sharing initiative Nederland, 1 more item PubMed: Liu 2017, PubMed: Vorster 2017, PubMed: Xu 2017 - - CLASSIFICATION record, Germline - 1/101 cases OI - - - Johan den Dunnen, Raymond Dalgleish, VKGL-NL_VUmc
+/+, +/+? 4 2 c.344G>A r.(?) p.(Arg115Gln) - pathogenic g.39973408G>A - - - FKBP10_000009 1 more item PubMed: Kelley 2011, PubMed: Li 2019, Journal: Li 2019, PubMed: Schwarze 2013, PubMed: Umair 2016 - - Germline - - - - - Raymond Dalgleish, Peter Byers, Xiuli Zhao
+/+ 2 2i c.391+4A>T r.spl p.? - pathogenic g.39973459A>T - - - FKBP10_000031 1 more item PubMed: Essawi 2018 - - Germline - - - - - Sofie Symoens
+/+ 1 3 c.407C>T r.(?) p.(Pro136Leu) - pathogenic g.39974356C>T - - - FKBP10_000023 - PubMed: Schwarze 2013 - - Germline - - - - - Peter Byers
-?/. 1 - c.420C>G r.(?) p.(Leu140=) - likely benign g.39974369C>G g.41818117C>G FKBP10(NM_021939.3):c.420C>G (p.L140=) - FKBP10_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.582-4G>T r.spl? p.? - likely benign g.39974630G>T - FKBP10(NM_021939.3):c.582-4G>T - FKBP10_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/?, -/., -?/., ?/. 5 4 c.590A>G r.(?) p.(Lys197Arg) - benign, likely benign, pathogenic, VUS g.39974642A>G g.41818390A>G FKBP10(NM_021939.3):c.590A>G (p.(Lys197Arg), p.K197R) - FKBP10_000003 conflicting interpretations of pathogenicity; 176 heterozygous; Clinindb (India), 2 more items PubMed: Barbirato 2016, PubMed: Narang 2020, Journal: Narang 2020 - rs34764749 CLASSIFICATION record, Germline - 176/2794 individuals, 4/2794 individuals - - - Raymond Dalgleish, VKGL-NL_Leiden, VKGL-NL_VUmc, Mohammed Faruq
+/+ 1 4 c.600_604del r.(?) p.(Tyr201Hisfs*58) - pathogenic g.39974652_39974656del - - - FKBP10_000012 - PubMed: Setijowati 2011 - - Germline - - - - - Raymond Dalgleish
+/+ 1 4 c.612C>G r.(?) p.(Tyr204*) - pathogenic g.39974664C>G - - - FKBP10_000038 - PubMed: Velasco and Morales, 2017 - - Germline - - - - - Raymond Dalgleish
+/+ 1 4 c.689T>C r.(?) p.(Ile230Thr) - pathogenic g.39974741T>C - - - FKBP10_000016 - PubMed: Caparrós-Martin 2013 - - Germline - - - - - Victor L Ruiz-Perez
+/. 1 - c.703del r.(?) p.(Leu235Trpfs*11) - pathogenic g.39974755del - FKBP10(NM_021939.3):c.703delC (p.L235Wfs*11) - FKBP10_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.727+236C>A r.(=) p.(=) - likely benign g.39975015C>A g.41818763C>A FKBP10(NM_021939.3):c.727+236C>A - FKBP10_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., ?/- 2 5 c.732A>G r.(?) p.(=), p.(Thr244=) - benign, VUS g.39975466A>G g.41819214A>G FKBP10(NM_021939.3):c.732A>G (p.T244=) - FKBP10_000004 VKGL data sharing initiative Nederland - - rs8078775 CLASSIFICATION record, Germline - - - - - Raymond Dalgleish, VKGL-NL_VUmc
+/+ 2 5 c.743dup r.(?) p.(Gln249Thrfs*12) - pathogenic g.39975477dup - 743dupC - FKBP10_000010 - PubMed: Schwarze 2013, PubMed: Shaheen 2011 - - Germline - - - - - Raymond Dalgleish, Peter Byers
+/+, +/. 2 5 c.764_772dup r.(?) p.(His255_Leu257dup) - pathogenic, pathogenic (recessive) g.39975498_39975506dup g.41819246_41819254dup 764_772dupACGTCCTCC - FKBP10_000026 - PubMed: Zhou 2014 - - Germline - - - - - Johan den Dunnen, Raymond Dalgleish
+/+ 1 5 c.809_843del r.(?) p.(Leu270Glnfs*91) - pathogenic g.39975543_39975577del g.41819291_41819325del - - FKBP10_000041 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+/+ 2 5 c.813_814del r.(?) p.(Glu271Aspfs*101) - pathogenic g.39975547_39975548del g.41819295_41819296del - - FKBP10_000040 - PubMed: Li 2019, Journal: Li 2019, PubMed: Zhang 2018 - - Germline - - - - - Raymond Dalgleish, Xiuli Zhao
+/+, +/? 7 5 c.831del r.(?) p.(Gly278Alafs*20) - pathogenic g.39975565del - 831delC - FKBP10_000039 - PubMed: Li 2019, Journal: Li 2019, PubMed: Vorster 2017, PubMed: Zhang 2018 - - Germline - - - - - Raymond Dalgleish, Xiuli Zhao
+/+, +/., +/? 62 5 c.831dup r.(?) p.(Gly278Argfs*95) - pathogenic, pathogenic (recessive) g.39975565dup g.41819313dup 831dupC, NM_021939.3:c.831dupC:p.(Gly278Argfs*95) - FKBP10_000002 2 more items PubMed: Alabdullatif 2016, PubMed: Alanay 2010, PubMed: Barbirato 2016, PubMed: Caparrós-Martin 2013, 12 more items - rs137853883 Germline - 1/101 cases OI - - - Johan den Dunnen, Raymond Dalgleish, Peter Byers, Victor L Ruiz-Perez
-?/. 1 - c.850G>A r.(?) p.(Gly284Arg) - likely benign g.39975584G>A g.41819332G>A FKBP10(NM_021939.3):c.850G>A (p.(Gly284Arg)) - FKBP10_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 3 5 c.877_879del r.(?) p.(Tyr293del) - pathogenic g.39975611_39975613del - - - FKBP10_000017 founder allele Barnes 2012, ASHG2012:120120601, PubMed: Barnes 2013 - - Germline - - - - - Aileen Barnes
+/+, +/. 2 5 c.879C>G r.(?) p.(Tyr293*) - pathogenic, pathogenic (recessive) g.39975613C>G g.41819361C>G - - FKBP10_000035 - PubMed: Liu 2017, PubMed: Xu 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen, Raymond Dalgleish
+/. 2 - c.890_897dup r.(?) p.(Gly300*) - pathogenic g.39975624_39975631dup g.41819372_41819379dup - - FKBP10_000089 - PubMed: Demir 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.917+16A>G r.(=) p.(=) - likely benign g.39975667A>G g.41819415A>G FKBP10(NM_021939.3):c.917+16A>G - FKBP10_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/., -/. 2 - c.917+53G>T r.(=) p.(=) - benign, likely pathogenic g.39975704G>T g.41819452G>T FKBP10(NM_021939.3):c.917+53G>T - FKBP10_000076 48 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs141387386 CLASSIFICATION record, Germline - 48/2788 individuals - - - VKGL-NL_VUmc, Mohammed Faruq
+/+ 1 5i c.918-6T>G r.spl p.(Ser306Argfs*18) - pathogenic g.39975776T>G - - - FKBP10_000043 the variant deactivates a splice acceptor site, leading to a frameshift PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+/+, +/. 2 5i c.918-3C>G r.spl p.? - pathogenic, pathogenic (recessive) g.39975779C>G g.41819527C>G - - FKBP10_000036 - PubMed: Liu 2017, PubMed: Xu 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen, Raymond Dalgleish
-?/. 1 - c.942T>C r.(?) p.(Asn314=) - likely benign g.39975806T>C - FKBP10(NM_021939.3):c.942T>C (p.N314=) - FKBP10_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 10 6 c.948dup r.(?) p.(Ile317Tyrfs*56) - pathogenic g.39975812dup - 948dupT - FKBP10_000024 - PubMed: Schwarze 2013 - - Germline - - - - - Peter Byers
+/+ 1 6 c.950_951dup r.(?) p.(Gly318Serfs*48) - pathogenic g.39975814_39975815dup - - - FKBP10_000019 - Le Merrer 2010, ASHG 2010:21949 - - Germline - - - - - Raymond Dalgleish
+/+ 1 6 c.976del r.(?) p.(Met326Trpfs*39) - pathogenic g.39975840del - 976delA - FKBP10_000030 - PubMed: Seyedhassani 2016 - - Germline - - - - - Raymond Dalgleish
+/+ 1 6 c.1016G>A r.spl? p.(Ser306Argfs*18) - pathogenic g.39975880G>A - - - FKBP10_000044 the variant probably interferes with a spicing enhancer or inhibitor, resulting in a frameshift. PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
+/+, +/. 4 6 c.1016_1023dup r.(?) p.(Thr342Glyfs*26) - pathogenic, pathogenic (recessive) g.39975880_39975887dup g.41819628_41819635dup NM_021939.3:c.1016_1023dup:p.(Thr342Glyfs*26) - FKBP10_000006 1 more item PubMed: Maddirevula 2018, PubMed: Shaheen 2010 - - Germline - - - - - Raymond Dalgleish
+/. 1 - c.1034dup r.(?) p.(His346Alafs*27) - likely pathogenic (recessive) g.39975898dup g.41819646dup NM_021939.3:c.1034dupC:p.(His346Alafs*27) - FKBP10_000092 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+/+ 1 6i c.1063+2T>C r.spl p.? - pathogenic g.39975929T>C - - - FKBP10_000055 - PubMed: Trancozo 2019 - - Germline - - - - - Raymond Dalgleish
+/+, +/. 2 7 c.1086del r.(?) p.(Val363Cysfs*2) - pathogenic, pathogenic (recessive) g.39976543del g.41820291del 1085_1086delC, 1086delC - FKBP10_000034 1 more item PubMed: Liu 2017, PubMed: Xu 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen, Raymond Dalgleish
-?/. 1 - c.1090C>T r.(?) p.(Leu364=) - likely benign g.39976547C>T g.41820295C>T FKBP10(NM_021939.3):c.1090C>T (p.L364=) - FKBP10_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/- 1 7 c.1152A>T r.(?) p.(=) - VUS g.39976609A>T - - - FKBP10_000005 - - - rs7208619 Germline - - - - - Raymond Dalgleish
+/+ 1 7 c.1207C>T r.(?) p.(Arg403*) - pathogenic g.39976664C>T - - - FKBP10_000013 - PubMed: Steinlein 2011 - rs372896892 Germline - - - - - Raymond Dalgleish
-?/., ?/. 3 - c.1256C>T r.(?) p.(Ser419Leu) - likely benign, VUS g.39976713C>T g.41820461C>T FKBP10(NM_021939.3):c.1256C>T (p.S419L, p.(Ser419Leu)) - FKBP10_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+?/. 1 - c.1256+1G>A r.(?) p.? - likely pathogenic g.39976714G>A g.41820462G>A - - FKBP10_000090 both unaffected parents heterozygous carriers PubMed: Demir 2021 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1256+14G>C r.(=) p.(=) - benign g.39976727G>C g.41820475G>C FKBP10(NM_021939.3):c.1256+14G>C - FKBP10_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1256+16G>T r.(=) p.(=) - likely benign g.39976729G>T g.41820477G>T FKBP10(NM_021939.3):c.1256+16G>T - FKBP10_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1256+17dup r.(=) p.(=) - benign g.39976730dup g.41820478dup FKBP10(NM_021939.3):c.1256+17dupG - FKBP10_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1257-7C>T r.(=) p.(=) - likely benign g.39977192C>T g.41820940C>T FKBP10(NM_021939.3):c.1257-7C>T - FKBP10_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 7i c.1257-2A>G r.spl p.? - pathogenic g.39977197A>G - - - FKBP10_000046 variant causes skipping of exon 8 and a frameshift, but the mRNA remains stable. PubMed: Maghami 2018 - - Germline - - - - - Raymond Dalgleish
+?/? 1 8 c.1271del r.(?) p.(Gln426Argfs*10) - likely pathogenic g.39977213del - - - FKBP10_000032 - PubMed: Essawi 2018 - - Germline - - - - - Sofie Symoens
+/+, +/. 5 8 c.1271_1272delinsA r.(?) p.(Ala424Aspfs*12) - pathogenic, pathogenic (recessive) g.39977213_39977214delinsA g.41820961_41820962delinsA 1271_1272delCCinsA - FKBP10_000014 - PubMed: Barnes 2012, PubMed: Puig-Hervas 2012 - - Germline yes - - - - Johan den Dunnen, Aileen Barnes, Victor L Ruiz-Perez
+/+ 1 8 c.1276dup r.(?) p.(Gln426Profs*54) - pathogenic g.39977218dup - 1276dupC - FKBP10_000008 - PubMed: Kelley 2011 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.1278G>A r.(?) p.(Gln426=) - likely benign g.39977220G>A g.41820968G>A FKBP10(NM_021939.3):c.1278G>A (p.Q426=) - FKBP10_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.1307T>C r.(?) p.(Ile436Thr) - likely benign, VUS g.39977249T>C g.41820997T>C FKBP10(NM_021939.3):c.1307T>C (p.(Ile436Thr), p.I436T) - FKBP10_000080 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs61749879 CLASSIFICATION record, Germline - 3/2790 individuals - - - VKGL-NL_Leiden, VKGL-NL_VUmc, Mohammed Faruq
+/+, +/? 2 8 c.1330C>T r.(?) p.(Gln444*) - pathogenic g.39977272C>T - - - FKBP10_000025 - PubMed: Essawi 2018, PubMed: Schwarze 2013 - - Germline yes - - - - Sofie Symoens, Peter Byers
+/+? 1 8 c.1345G>A r.(?) p.(Gly449Arg) - pathogenic g.39977287G>A - - - FKBP10_000018 - Barnes 2012, ASHG2012:120120601 - - Germline - - - - - Raymond Dalgleish
-?/. 2 - c.1363A>G r.(?) p.(Ile455Val) - likely benign g.39977305A>G g.41821053A>G FKBP10(NM_021939.3):c.1363A>G (p.I455V) - FKBP10_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/+ 1 8i c.1399+1G>A r.spl p.? - pathogenic g.39977342G>A - - - FKBP10_000011 - PubMed: Venturi 2011 - - Germline - - - - - Raymond Dalgleish
-/., -?/. 2 - c.1400-4C>G r.spl? p.? - benign, likely benign g.39977902C>G g.41821650C>G FKBP10(NM_021939.3):c.1400-4C>G (p.?, ) - FKBP10_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
+/+, +/. 2 9 c.1405G>T r.(?) p.(Gly469*) - pathogenic, pathogenic (recessive) g.39977911G>T g.41821659G>T - - FKBP10_000027 - PubMed: Zhou 2014 - - Germline - - - - - Johan den Dunnen, Raymond Dalgleish
+/? 1 9 c.1479_1480del r.(?) p.(Leu494Valfs*13) - pathogenic g.39977985_39977986del - - - FKBP10_000048 - PubMed: Mrosk 2018 - - Germline - - - - - Raymond Dalgleish
+/? 1 9 c.1479_1481delinsTCAG r.(?) p.(Leu494Glnfs*14) - pathogenic g.39977985_39977987delinsTCAG - - - FKBP10_000047 - PubMed: Mrosk 2018 - - Germline - - - - - Raymond Dalgleish
+/+ 1 9 c.1490G>A r.(?) p.(Trp497*) - pathogenic g.39977996G>A - - - FKBP10_000029 - PubMed: Umair 2016 - - Germline - - - - - Raymond Dalgleish
-?/., -?/? 3 10 c.1546G>A r.(?) p.(Glu516Lys) - likely benign g.39978052G>A - FKBP10(NM_021939.3):c.1546G>A (p.(Glu516Lys)) - FKBP10_000053 VKGL data sharing initiative Nederland PubMed: Barbirato 2016 - - CLASSIFICATION record, Germline - - - - - Raymond Dalgleish, VKGL-NL_Leiden
+/? 1 10 c.1621C>T r.(?) p.? - pathogenic g.39978532C>T - - - FKBP10_000051 - PubMed: Vorster 2017 - - Germline - - - - - Raymond Dalgleish
+/? 1 10 c.1672C>T r.(?) p.(Gln558*) - pathogenic g.39978583C>T - - - FKBP10_000049 - PubMed: Mrosk 2018 - - Germline - - - - - Raymond Dalgleish
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