Full data view for gene HSF4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001374675.1 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Technique     

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Remarks     

Disease     

ID_report     

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Remarks     

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Age at death     

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+/. - c.? r.spl? p.? Unknown - pathogenic (dominant) g.67197914C>G g.67164011C>G -497-8C>G - HSF4_000037 - PubMed: Zhai 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam6 PubMed: Zhai 2017 4-generation family, 2 affected (F, M) F - China - - - - - 2 Johan den Dunnen
+/. 3 c.56C>A r.(?) p.(Ala19Asp) Unknown - likely pathogenic (dominant) g.67198770C>A g.67164867C>A - - HSF4_000002 - PubMed: Bu 2002, OMIM:var0003 - - De novo - - - - - DNA SEQ - - CTRCT FamIIPatII1 PubMed: Bu 2002 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.56C>A - p.Ala19Asp Unknown - NA g.67198770C>A g.67164867C>A A20D - HSF4_000002 markedly inhibited HSF4b oligomerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding PubMed: Enoki 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.69G>T r.(?) p.(Lys23Asn) Unknown - likely pathogenic g.67198783G>T g.67164880G>T - - HSF4_000018 - PubMed: Lv 2014 - - Germline - - - - - DNA, protein arraySNP - - CTRCT - PubMed: Lv 2014 family, 10 affected individuals - - China - - - - - 10 Deepti Anand
+?/. - c.88dup r.(?) p.(Asp30GlyfsTer37) Unknown - likely pathogenic (dominant) g.67198802dup g.67164899dup 83_84insG - HSF4_000047 - PubMed: Liu 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam122Pat325 PubMed: Liu 2023 - M - China - - - - - 1 Johan den Dunnen
+?/. 3 c.103C>T r.(?) p.(His35Tyr) Parent #1 - likely pathogenic g.67198817C>T g.67164914C>T - - HSF4_000020 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother F no - - - - - - 2 Johan den Dunnen
-?/. 3i c.123+9C>T r.(?) p.(=) Maternal (confirmed) - likely benign g.67198846C>T g.67164943C>T IVS1+9C>T - HSF4_000044 variant in 6/96 controls Germany PubMed: Santhiya 2010 - - Germline no - -HaeIII - - DNA SEQ - gene panel CTRCT FamJEE13PatIII4 PubMed: Santhiya 2010 3-generation family, 4 affected (2F, 2M) F - India - - - - - 4 Johan den Dunnen
?/. - c.179C>A r.(?) p.(Pro60His) Parent #1 - VUS g.67199480C>A g.67165577C>A - - HSF4_000038 - PubMed: Li 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Pat57 PubMed: Li 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.179C>T r.(?) p.(Pro60Leu) Unknown - likely pathogenic g.67199480C>T g.67165577C>T HSF4(NM_001040667.2):c.179C>T(p.P60H) - HSF4_000033 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 105 - - - DNA SEQ-NG-I blood - ? WHP5 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+?/. - c.182A>G r.(?) p.(Gln61Arg) Unknown - likely pathogenic g.67199483A>G g.67165580A>G 1078A>G - HSF4_000006 - PubMed: Shi 2008 - - Germline - - - - - DNA, protein arraySNP - - CTRCT - PubMed: Shi 2008 - - - - - - - - - 150 Deepti Anand
-?/. - c.182A>G - p.Gln61Arg Unknown - NA g.67199483A>G g.67165580A>G Q62R - HSF4_000006 has marginal effects on lens protein gene expression by HSF4b in lens epithelial cells PubMed: Enoki 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.187T>C r.(?) p.(Phe63Leu) Parent #1 - pathogenic g.67199488T>C g.67165585T>C - - HSF4_000013 - - - - Germline - - - - - DNA SEQ - - CTRCT - - - - no - - - - - - 1 Juhua Yang
+?/. - c.187T>C r.(?) p.(Phe63Leu) Parent #1 ACMG likely pathogenic (dominant) g.67199488T>C g.67165585T>C - - HSF4_000013 - PubMed: Cao 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CAT-51 PubMed: Cao 2018 3-generation family, 4 affected (2F, 2M) F;M - China - - - - - 4 Johan den Dunnen
+/. - c.190A>G r.(?) p.(Lys64Glu) Parent #1 - pathogenic (dominant) g.67199491A>G g.67165588A>G - - HSF4_000035 - PubMed: Berry 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT family PubMed: Berry 2018 5-generation family, 13 affected (4F, 9M) F;M - United Kingdom (Great Britain) - - - - - 13 Johan den Dunnen
?/. - c.193C>T r.(?) p.(His65Tyr) Parent #1 - VUS g.67199494C>T g.67165591C>T - - HSF4_000045 VUS PM2, PP3 PubMed: Kessel 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT CC0000888 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
+?/. - c.218G>A r.(?) p.(Arg73His) Unknown - likely pathogenic g.67199519G>A g.67165616G>A 221G>A (Arg74His) - HSF4_000007 - PubMed: Ke 2006 - - Germline ? - - - - DNA, protein arraySNP - - CTRCT - PubMed: Ke 2006 - - - China - - - - - 7 Deepti Anand
+/. - c.218G>A - p.Arg73His Unknown - NA g.67199519G>A g.67165616G>A R74H - HSF4_000007 does not affect HSF4b trimerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding PubMed: Enoki 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.218G>T r.(?) p.(Arg73Leu) Paternal (confirmed) - pathogenic g.67199519G>T g.67165616G>T - - HSF4_000001 - - - - Germline - - - - - DNA SEQ - - CTRCT - - 1 familie, 2 patients M - China Han - - - - 1 Juhua Yang
+?/. - c.218G>T r.(?) p.(Arg73Leu) Parent #1 ACMG likely pathogenic (dominant) g.67199519G>T g.67165616G>T - - HSF4_000001 - PubMed: Cao 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CAT-12 PubMed: Cao 2018 2-generation family, 2 affected (2M) M - China - - - - - 2 Johan den Dunnen
+/. 4i c.233-1G>A r.(?) p.? Parent #1 - pathogenic g.67199621G>A g.67165718G>A IVS5-1G>A - HSF4_000014 - - - - Germline - - - - - DNA SEQ - - CTRCT - - - F no China - - - - - 1 Juhua Yang
+/. - c.233-1G>A r.spl p.? Parent #1 ACMG pathogenic (dominant) g.67199621G>A g.67165718G>A - - HSF4_000014 - PubMed: Cao 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CAT-50 PubMed: Cao 2018 3-generation family, 3 affected (F, 2M) F;M - China - - - - - 3 Johan den Dunnen
+/. 5 c.233A>G r.(?) p.(Tyr78Cys) Parent #1 - pathogenic g.67199622A>G g.67165719A>G - - HSF4_000012 - - - - Germline - - - - - DNA SEQ - - CTRCT - - - M - China - - - - - 1 Juhua Yang
+?/. - c.233A>G r.(?) p.(Tyr78Cys) Parent #1 ACMG likely pathogenic (dominant) g.67199622A>G g.67165719A>G - - HSF4_000012 - PubMed: Cao 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CAT-37 PubMed: Cao 2018 2-generation family, 2 affected (F, M) F;M - China - - - - - 2 Johan den Dunnen
+/. 5 c.256A>G r.(?) p.(Ile86Val) Paternal (confirmed) - pathogenic g.67199645A>G g.67165742A>G - - HSF4_000003 - PubMed: Bu 2002, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CTRCT Fam PubMed: Bu 2002 2-generation family, affected father/child - - China - - - - - 2 Johan den Dunnen
-?/. - c.256A>G - p.Ile86Val Unknown - NA g.67199645A>G g.67165742A>G I87V - HSF4_000003 has marginal effects on lens protein gene expression by HSF4b in lens epithelial cells PubMed: Enoki 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.314G>C r.(?) p.(Ser105Thr) Parent #1 - pathogenic g.67199703G>C g.67165800G>C - - HSF4_000011 - - - - Germline - - - - - DNA SEQ - - CTRCT - - - M no China - - - - - 1 Juhua Yang
+?/. - c.314G>C r.(?) p.(Ser105Thr) Parent #1 ACMG likely pathogenic (dominant) g.67199703G>C g.67165800G>C - - HSF4_000011 - PubMed: Cao 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CAT-02 PubMed: Cao 2018 3-generation family, 6 affected (4F, 2M) F;M - China - - - - - 6 Johan den Dunnen
+?/. 5 c.314G>C r.(?) p.(Ser105Thr) Unknown - likely pathogenic (dominant) g.67199703G>C g.67165800G>C - - HSF4_000011 - PubMed: Liu 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam93Pat256 PubMed: Liu 2023 - M - China - - - - - 1 Johan den Dunnen
+?/. 4 c.328C>T r.(?) p.(Arg110Cys) Unknown - likely pathogenic g.67199717C>T g.67165814C>T 331C>T (Arg111Cys) - HSF4_000019 - PubMed: Liu 2015 - - Germline ? - - - - DNA, protein arraySNP - - CTRCT - PubMed: Liu 2015 - - - China - - - - - 8 Deepti Anand
+/. - c.328C>T - p.Arg110Cys Unknown - NA g.67199717C>T g.67165814C>T R120C - HSF4_000019 markedly inhibited HSF4b oligomerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding PubMed: Enoki 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.341T>A r.(?) p.(Leu114Gln) Paternal (confirmed) - pathogenic (dominant) g.67199730T>A g.67165827T>A - - HSF4_000039 - PubMed: Jiao 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam97001Pat3 PubMed: Jiao 2022 2-generation family, affected father and 2 sons M - Ukraine - - - - - 3 Johan den Dunnen
+/. - c.341T>A r.(?) p.(Leu114Gln) Paternal (confirmed) - pathogenic (dominant) g.67199730T>A g.67165827T>A - - HSF4_000039 - PubMed: Jiao 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam97001Pat4 PubMed: Jiao 2022 son M - Ukraine - - - - - 1 Johan den Dunnen
+/. 5 c.341T>C r.(?) p.(Leu114Pro) Parent #1 - pathogenic g.67199730T>C g.67165827T>C 348C>T (Leu115Pro) - HSF4_000004 - PubMed: Bu 2002, Journal: Bu 2002, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - CTRCT5 FamI PubMed: Bu 2002, Journal: Bu 2002 5-generation family, 31 affecteds (13F, 18M), unaffected heterozygous carrier parents F;M no China - - - - - 31 Johan den Dunnen
+?/. - c.341T>C r.(?) p.(Leu114Pro) Parent #1 ACMG likely pathogenic (dominant) g.67199730T>C g.67165827T>C - - HSF4_000004 ACMG PS3, PS4mod, PM2, PP3 PubMed: Hansen 2009, PubMed: Kessel 2021 VCV000007092.1 - Germline yes - - - - DNA SEQ - - CTRCT CC00128 PubMed: Hansen 2009, PubMed: Kessel 2021 4-generation family, 15 affected (8F, 7M) F;M - Denmark - - - - - 15 Johan den Dunnen
+/. - c.341T>C - p.Leu114Pro Unknown - NA g.67199730T>C g.67165827T>C L115P - HSF4_000004 markedly inhibited HSF4b oligomerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding PubMed: Enoki 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.347G>A r.(?) p.(Arg116His) Unknown - likely pathogenic g.67199736G>A g.67165833G>A 1243G>A (Arg116His) - HSF4_000008 - PubMed: Shi 2008 - - Germline ? - - - - DNA, protein arraySNP - - CTRCT - PubMed: Shi 2008 - - - - - - - - - 150 Deepti Anand
-?/. - c.347G>A - p.Arg116His Unknown - NA g.67199736G>A g.67165833G>A R117H - HSF4_000008 has marginal effects on lens protein gene expression by HSF4b in lens epithelial cells PubMed: Enoki 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.355C>T r.(?) p.(Arg119Cys) Parent #1 - pathogenic (dominant) g.67199744C>T g.67165841C>T 362C>T - HSF4_000005 - PubMed: Bu 2002, PubMed: Kessel 2021 - - Germline yes - - - - DNA SEQ - - CTRCT Fam;FamDenmark;CC00101 PubMed: Marner 1989, PubMed: Bu 2002, PubMed: Kessel 2021 9-generation family, 17 affected F;M - Denmark - - - - - 17 Johan den Dunnen
+/. - c.355C>T r.(?) p.(Arg119Cys) Maternal (confirmed) - pathogenic (dominant) g.67199744C>T g.67165841C>T - - HSF4_000005 - PubMed: Hansen 2009 - - Germline yes - - - - DNA SEQ - - CTRCT CC00171 PubMed: Hansen 2009 2-generation family, affected mother/dauhter F - Denmark - - - - - 2 Johan den Dunnen
+/. - c.356G>A r.(?) p.(Arg119His) Unknown ACMG pathogenic (dominant) g.67199745G>A g.67165842G>A - - HSF4_000040 ACMG PM1 PM2 PP1 PP2 PP3 PP4 BP1 PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam5PatIV12 PubMed: Li 2019 6-generation family, 20 affected (9F, 11M) M - China - - - - - 20 Johan den Dunnen
?/. - c.356G>T r.(?) p.(Arg119Leu) Parent #1 - VUS g.67199745G>T g.67165842G>T - - HSF4_000046 VUS PM2, PM5, PP3 PubMed: Kessel 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT CC00111 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
?/. - c.360+1G>A r.(?) p.? Paternal (confirmed) - VUS g.67199750G>A g.67165847G>A HSF4 c.360+1G>A, - - HSF4_000032 heterozygous, present in affected father PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 10 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.360+1G>A r.spl p.? Unknown - pathogenic (dominant) g.67199750G>A g.67165847G>A - - HSF4_000032 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam32PatI PubMed: Jackson 2020 - M - - - - - - - 1 Johan den Dunnen
+/. - c.433G>C r.(?) p.(Ala145Pro) Both (homozygous) - pathogenic (recessive) g.67199921G>C g.67166018G>C - - HSF4_000026 - PubMed: Chen 2017 - - Germline yes - - - - DNA SEQ - - CTRCT Fam60074 PubMed: Chen 2017 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M - - - - - - - 3 Johan den Dunnen
?/. - c.479T>G r.(?) p.(Leu160Arg) Both (homozygous) ACMG VUS g.67199967T>G g.67166064T>G HSF4 c.479T>G p.(Leu160Arg) hom - HSF4_000029 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 15014851 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.486-2A>G r.spl p.? Maternal (confirmed) - likely pathogenic (recessive) g.67200221A>G g.67166318A>G NM_001040667.2:c.486-2A>G - HSF4_000041 - PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam27 PubMed: Fernandez-Alcalde 2021 2-generation family, 1 affected, unaffected heterozygous parents F - Spain - - - - - 1 Johan den Dunnen
+/. - c.503G>A r.(?) p.(Trp168Ter) Unknown ACMG pathogenic g.67200240G>A g.67166337G>A HSF4 c.503G>A p.(Trp168Ter) het HSF4 c.1188+1G>A het - HSF4_000030 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 17003685 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.521T>C r.(?) p.(Leu174Pro) Both (homozygous) - pathogenic (recessive) g.67200258T>C g.67166355T>C - - HSF4_000036 - PubMed: Behnam 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT family PubMed: Behnam 2016 6-generation family, 2 affected brothers, unaffected heterozygous parents/relatives M - Iran - - - - - 2 Johan den Dunnen
+?/. 7 c.524G>C r.(?) p.(Arg175Pro) Both (homozygous) - likely pathogenic g.67200261G>C g.67166358G>C - - HSF4_000009 - PubMed: Forshew 2005 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Forshew 2005 - - - Pakistan - - - - - 5 Deepti Anand
+?/. - c.524G>C r.(?) p.(Arg175Pro) Both (homozygous) - likely pathogenic (recessive) g.67200261G>C g.67166358G>C - - HSF4_000009 - PubMed: Forshew 2005 - - Germline yes - - - - DNA SEQ - - CTRCT FamC PubMed: Forshew 2005 4-generation family, 5 affected brothers/sister (2F, 3M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
+/. - c.524G>C - p.Arg175Pro Unknown - NA g.67200261G>C g.67166358G>C R176P - HSF4_000009 inhibits transcription activation ability of HSF4b due to defective HSE-binding PubMed: Enoki 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.558C>T r.(?) p.(Gly186=) Both (homozygous) - likely pathogenic g.67200295C>T g.67166392C>T HSF4(NM_001040667.2):c.558C>T(p.G186G) - HSF4_000034 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 113 - - - DNA SEQ-NG-I blood - ? WHP13 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+?/. 8 c.596_600del r.(?) p.(Gly199GlufsTer15) Both (homozygous) - likely pathogenic g.67200495_67200499del g.67166592_67166596del 595_599delGGGCC - HSF4_000015 - PubMed: Forshew 2005 - - Germline yes - - - - DNA, protein arraySNP - - ? - PubMed: Forshew 2005 - - - Pakistan - - - - - 5 Deepti Anand
+?/. - c.596_600del r.(?) p.(Gly199GlufsTer15) Both (homozygous) - likely pathogenic (recessive) g.67200495_67200499del g.67166592_67166596del 595_599delGGGCC - HSF4_000015 - PubMed: Forshew 2005 - - Germline yes - - - - DNA SEQ - - CTRCT FamD PubMed: Forshew 2005 4-generation family, 5 affected (F, 4M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
+/. - c.596_600del - p.Gly199GlufsTer15 Unknown - NA g.67200495_67200499del g.67166592_67166596del 595_599delGGGCC - HSF4_000015 cDNA expression cloning shows normal protein stability, normal subcellular localization and significantly reduced transactivation potential PubMed: Merath 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 7 c.636G>T r.(?) p.(Met212Ile) Unknown - benign g.67201032G>T g.67167129G>T - - FBXL8_000003 not in 340 control chromosomes PubMed: Cao 2018 - - Germline - 1/34 chromosomes cases CTRCT - - - DNA SEQ - - CTRCT CC00109 PubMed: Cao 2018 - - - Denmark - - - - - 1 Johan den Dunnen
?/. - c.636G>T r.(?) p.(Met212Ile) Parent #1 - VUS g.67201032G>T g.67167129G>T - - FBXL8_000003 - PubMed: Reis 2013 - - Germline no - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat12 PubMed: Reis 2013 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.966G>T r.(?) p.(Pro322=) Unknown - likely benign g.67201734G>T - HSF4(NM_001040667.2):c.966G>T (p.P322=) - FBXL8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1188+1G>A r.(?) p.? Unknown ACMG pathogenic g.67202840G>A g.67168937G>A HSF4 c.503G>A p.(Trp168Ter) het HSF4 c.1188+1G>A het - HSF4_000031 different transcript: NM_001040667.2(HSF4):c.1188+1G>A; compound heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 17003685 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 13 c.1213C>T r.(?) p.(Arg405Ter) Both (homozygous) - pathogenic (recessive) g.67202963C>T g.67169060C>T - - HSF4_000016 - PubMed: Sajjad 2008 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT BUIT-CA01 PubMed: Sajjad 2008 4-generation family, 8 affected (5F, 3M), unaffected heterozygous parents/relatives F;M yes Afghanistan;Pakistan - - - - - 8 Deepti Anand
+/. - c.1213C>T - p.Arg405Ter Unknown - NA g.67202963C>T g.67169060C>T c.1213C>T - HSF4_000016 cDNA expression cloning shows normal protein stability, normal subcellular localization and significantly reduced transactivation potential PubMed: Merath 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1255-61_1255-57del r.(=) p.(=) Unknown - VUS g.67203121_67203125del - - - FBXL8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1255_1324del - p.Met419GlufsTer29 Unknown - NA g.67203255A>G g.67169352A>G 1327+4A>G - HSF4_000017 variant linked to c.1324+4A>G; cDNA expression cloning shows normal protein stability, normal subcellular localization and significantly reduced transactivation potential PubMed: Merath 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1305del r.(?) p.(Leu436Ter) Paternal (confirmed) - likely pathogenic (recessive) g.67203232del g.67169329del NM_001040667.2:c.1302delG - HSF4_000042 - PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam27 PubMed: Fernandez-Alcalde 2021 2-generation family, 1 affected, unaffected heterozygous parents F - Spain - - - - - 1 Johan den Dunnen
+/. 14i c.1324+4A>G r.(?) p.? Both (homozygous) - pathogenic g.67203255A>G g.67169352A>G 1327+4A>G (Met419GlyfsX29) - HSF4_000017 - PubMed: Smaoui 2004 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - CTRCT - PubMed: Smaoui 2004 - - - Tunisia - - - - - 22 Deepti Anand
+/. 14i c.1324+4A>G r.1255_1324del p.Met419GlufsTer29 Both (homozygous) - pathogenic (recessive) g.67203255A>G g.67169352A>G 1327+4A>G - HSF4_000017 - PubMed: Smaoui 2004 - - Germline yes - - - - DNA, RNA arraySNP, RT-PCR, SEQ - - CTRCT family PubMed: Smaoui 2004 8-generation family, 22 affected (14F, 8M) F;M yes Tunisia - - - - - 22 Johan den Dunnen
+/. - c.1475C>T r.(?) p.(Pro492Leu) Unknown - pathogenic (dominant) g.67203684C>T g.67169781C>T C1475T - HSF4_000043 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT WCC18PatII2 PubMed: Zhang 2018 2-generation family, 4 affected (2F, 2M) M - China - - - - - 4 Johan den Dunnen
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