Full data view for gene DHCR7

Information The variants shown are described using the NM_001360.2 transcript reference sequence.

993 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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.-5222C>A r.(?) p.(=) - Unknown - likely benign g.71164426G>T g.71453380G>T NADSYN1(NM_018161.4):c.84G>T (p.(Lys28Asn)) - DHCR7_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1i_2i c.-1065_-7+171del r.(?) p.(?) - Maternal (confirmed) - likely pathogenic g.71158485_71160269del g.71447439_71449223del NG_012655.2:g.4209_5993del - DHCR7_000246 deletaion of exon 1 and 2 - - - Unknown - - - 0 - DNA SEQ blood - SLOS - - - M no (United Kingdom (Great Britain)) white >00y 0 - - 1 Division of Human Genetics, Innsbruck
+?/+? 2i_6 c.-6-1198_537del r.(?) p.(?) - Paternal (confirmed) - likely pathogenic g.71152363_71157203del g.71441317_71446157del NG_012655.2:g.7276_12116del - DHCR7_000245 deletion of exon 3, 4, 5 and parts of exon 6 - - - Germline - - - 0 - DNA SEQ blood - SLOS - - - F no Poland;Turkey white >01y 0 - - 1 Division of Human Genetics, Innsbruck
?/? 2i c.-6-126del r.(=) p.(=) - Unknown - VUS g.71156130del g.71445084del - - DHCR7_000187 - - - - Unknown - - - 0 - DNA SEQ - - SLOS - - - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
?/? 2i_4i c.-5_321+1del r.spl? p.? - Maternal (confirmed) - VUS g.71155042_71156007del g.71443996_71444961del - - DHCR7_000241 - PubMed: Weaver et al. 2010 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Weaver 2010 Patient described in Weaver et al. (2010) M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 3 c.1A>G r.(?) p.(Met1?) B Unknown - likely pathogenic g.71155998T>C g.71444952T>C - - DHCR7_000156 - PubMed: Witsch-Baumgartner et al. 2005 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - ? ? United States white;Jewish-Ashkenazi - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 3 c.1A>G r.(?) p.(Met1?) B Paternal (confirmed) - likely pathogenic g.71155998T>C g.71444952T>C - - DHCR7_000156 - PubMed: Witsch-Baumgartner et al. 2005 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 13 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 3 c.1A>G r.(?) p.(Met1?) - Unknown - likely pathogenic g.71155998T>C g.71444952T>C - - DHCR7_000156 - PubMed: Witsch-Baumgartner et al. 2005 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 5 from Pappu et al. (2006) M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.3G>A r.(?) p.(Met1?) - Parent #1 - pathogenic g.71155996C>T g.71444950C>T - - DHCR7_000189 - PubMed: Waterham et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Langius 2003 Pateint A from Langius et al. (2003); brother of patient B Langius et al. (2003) M ? Netherlands white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.3G>A r.(?) p.(Met1?) - Parent #1 - pathogenic g.71155996C>T g.71444950C>T - - DHCR7_000189 - PubMed: Waterham et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Langius 2003 Patient B from Langius et al. (2003); brother of patient A Langius et al. (2003) M ? Netherlands white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.3G>A r.(?) p.(Met1?) - Parent #1 - pathogenic g.71155996C>T g.71444950C>T - - DHCR7_000189 - PubMed: Waterham et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Langius 2003 Patient C from Langius et al. (2003) F ? Netherlands white - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.3G>A r.(?) p.(Met1?) - Unknown - pathogenic g.71155996C>T g.71444950C>T DHCR7(NM_001360.2):c.3G>A (p.M1?) - DHCR7_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3G>A r.(?) p.(Met1?) - Unknown - pathogenic g.71155996C>T g.71444950C>T DHCR7(NM_001360.2):c.3G>A (p.M1?) - DHCR7_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3G>A r.(?) p.(Met1?) - Unknown - pathogenic g.71155996C>T - DHCR7(NM_001360.2):c.3G>A (p.M1?) - DHCR7_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25A>T r.(?) p.(Ile9Phe) - Unknown - likely benign g.71155974T>A - DHCR7(NM_001360.2):c.25A>T (p.I9F) - DHCR7_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70G>T r.(?) p.(Ala24Ser) - Unknown - likely benign g.71155929C>A - DHCR7(NM_001360.2):c.70G>T (p.A24S) - DHCR7_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.89G>C r.(?) p.(Gly30Ala) - Unknown - likely pathogenic g.71155910C>G g.71444864C>G - - DHCR7_000177 - PubMed: Blahakova et al. 2007 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 3 c.89G>C r.(?) p.(Gly30Ala) - Unknown - likely pathogenic g.71155910C>G g.71444864C>G - - DHCR7_000177 - PubMed: Blahakova et al. 2007 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Blahakova 2007 456 pregnat women were examined in this study; Induced abortion after SLOS confirmation; Case 3 in table 1 from Blahakova et al. 2007 ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.91C>T r.(?) p.(Arg31Cys) - Unknown - VUS g.71155908G>A - DHCR7(NM_001360.2):c.91C>T (p.R31C) - DHCR7_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3i c.98+2_98+6del r.spl? p.? - Paternal (confirmed) - likely pathogenic g.71155897_71155901del g.71444851_71444855del - - DHCR7_000114 - no - - Unknown - - - 0 - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.99-5C>T r.spl? p.? - Unknown - likely benign g.71155266G>A - DHCR7(NM_001360.2):c.99-5C>T - DHCR7_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.99-4G>A r.(=) p.(=) - Unknown - VUS g.71155265C>T g.71444219C>T - - DHCR7_000185 - PubMed: Almomani 2011 - - Germline - - - 0 - DNA SEQ-NG - WES autism, BMD/DMD, retinal disease, TSC - PubMed: Almomani 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/+? 3i c.99-4G>A r.spl? p.? - Maternal (confirmed) - likely pathogenic g.71155265C>T g.71444219C>T - - DHCR7_000185 - - - - Unknown - - - 0 - RNA SEQ - - SLOS - - - F ? Sweden white - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.99-4G>A r.spl? p.? - Unknown - likely benign g.71155265C>T g.71444219C>T DHCR7(NM_001163817.1):c.99-4G>A (p.?), DHCR7(NM_001360.2):c.99-4G>A - DHCR7_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.99-4G>A r.spl? p.? - Unknown - likely benign g.71155265C>T g.71444219C>T DHCR7(NM_001163817.1):c.99-4G>A (p.?), DHCR7(NM_001360.2):c.99-4G>A - DHCR7_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.99-4G>A r.spl? p.? - Unknown - benign g.71155265C>T g.71444219C>T DHCR7(NM_001163817.1):c.99-4G>A (p.?), DHCR7(NM_001360.2):c.99-4G>A - DHCR7_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.111G>A r.(?) p.(Trp37*) - Unknown - pathogenic g.71155249C>T g.71444203C>T - - DHCR7_000190 - PubMed: Yu et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Mutation described as p.E37*; Patient 116 from Yu et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.111G>A r.(?) p.(Trp37*) - Unknown - pathogenic g.71155249C>T g.71444203C>T - - DHCR7_000190 - PubMed: Yu et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 2 from Pappu et al. (2006) M ? - - - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.122C>T r.(?) p.(Ala41Val) - Unknown - likely benign g.71155238G>A - DHCR7(NM_001360.2):c.122C>T (p.A41V) - DHCR7_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.126C>T r.(?) p.(Ser42=) - Unknown - benign g.71155234G>A g.71444188G>A DHCR7(NM_001360.2):c.126C>T (p.S42=) - DHCR7_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126C>T r.(?) p.(Ser42=) - Unknown - likely benign g.71155234G>A - DHCR7(NM_001360.2):c.126C>T (p.S42=) - DHCR7_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.149C>A r.(?) p.(Ala50Asp) B Paternal (confirmed) - VUS g.71155211G>T g.71444165G>T - - DHCR7_000091 - PubMed: Witsch-Baumgartner et al. 2005 - - Unknown - - - 0 - DNA SEQ - - SLOS - - Nijmegen Therapy study, diet with cholesterol and simvastatin M ? Austria white - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.149C>T r.(?) p.(Ala50Val) - Unknown - VUS g.71155211G>A g.71444165G>A DHCR7(NM_001360.2):c.149C>T (p.(Ala50Val)) - DHCR7_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.151C>T r.(?) p.(Pro51Ser) - Paternal (confirmed) - likely pathogenic g.71155209G>A g.71444163G>A - - DHCR7_000028 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? Germany;Poland white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.151C>T r.(?) p.(Pro51Ser) - Paternal (confirmed) - likely pathogenic g.71155209G>A g.71444163G>A - - DHCR7_000028 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.151C>T r.(?) p.(Pro51Ser) - Parent #1 - likely pathogenic g.71155209G>A g.71444163G>A - - DHCR7_000028 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 300-3 from Yu et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.151C>T r.(?) p.(Pro51Ser) - Parent #1 - likely pathogenic g.71155209G>A g.71444163G>A - - DHCR7_000028 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 1100-3 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.151C>T r.(?) p.(Pro51Ser) - Unknown - likely pathogenic g.71155209G>A g.71444163G>A - - DHCR7_000028 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 8 from Pappu et al. (2006) M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.152C>A r.(?) p.(Pro51His) - Paternal (confirmed) - likely pathogenic g.71155208G>T g.71444162G>T - - DHCR7_000191 - PubMed: Anstey et al. 2005 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Anstey 2005 Patient 1 from Anstey et al 2005 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.160G>A r.(?) p.(Val54Ile) - Unknown - VUS g.71155200C>T g.71444154C>T DHCR7(NM_001360.2):c.160G>A (p.V54I) - DHCR7_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160G>A r.(?) p.(Val54Ile) - Unknown - VUS g.71155200C>T - DHCR7(NM_001360.2):c.160G>A (p.V54I) - DHCR7_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.166T>A r.(?) p.(Tyr56Asn) - Unknown - VUS g.71155194A>T g.71444148A>T DHCR7(NM_001163817.1):c.166T>A (p.(Tyr56Asn)) - DHCR7_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.172A>G r.(?) p.(Ile58Val) - Maternal (confirmed) - likely pathogenic g.71155188T>C g.71444142T>C - - DHCR7_000149 - no - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.176T>G r.(?) p.(Met59Arg) K Paternal (confirmed) - pathogenic g.71155184A>C g.71444138A>C - - DHCR7_000112 - PubMed: Waterham et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - - diet with cholesterol M ? Finland;Morocco white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.185A>T r.(?) p.(Asp62Val) - Maternal (confirmed) - pathogenic g.71155175T>A g.71444129T>A - - DHCR7_000119 - PubMed: Waterham et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.185A>T r.(?) p.(Asp62Val) - Unknown - pathogenic g.71155175T>A g.71444129T>A - - DHCR7_000119 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
-/. - c.189G>A r.(?) p.(Gln63=) - Unknown - benign g.71155171C>T g.71444125C>T DHCR7(NM_001360.2):c.189G>A (p.Q63=) - DHCR7_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189G>A r.(?) p.(Gln63=) - Unknown - benign g.71155171C>T g.71444125C>T DHCR7(NM_001360.2):c.189G>A (p.Q63=) - DHCR7_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.199G>A r.(?) p.(Ala67Thr) - Unknown - VUS g.71155161C>T g.71444115C>T DHCR7(NM_001360.2):c.199G>A (p.A67T) - DHCR7_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199G>A r.(?) p.(Ala67Thr) - Unknown - likely benign g.71155161C>T - DHCR7(NM_001360.2):c.199G>A (p.A67T) - DHCR7_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.203T>C r.(?) p.(Leu68Pro) - Unknown - likely pathogenic g.71155157A>G g.71444111A>G - - DHCR7_000151 - PubMed: Ciara et al. 2004 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Waye 2005 Patient 1 from table 1 Waye et al. 2005 ? ? United States;Canada white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.203T>C r.(?) p.(Leu68Pro) - Maternal (confirmed) - likely pathogenic g.71155157A>G g.71444111A>G - - DHCR7_000151 - PubMed: Ciara et al. 2004 - - Unknown - - - 0 - DNA SEQ - - SLOS - - brother of A194 M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.203T>C r.(?) p.(Leu68Pro) - Maternal (confirmed) - likely pathogenic g.71155157A>G g.71444111A>G - - DHCR7_000151 - PubMed: Ciara et al. 2004 - - Unknown - - - 0 - DNA SEQ - - SLOS - - brother of A193 M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
-/. - c.207T>C r.(?) p.(Thr69=) - Unknown - benign g.71155153A>G g.71444107A>G DHCR7(NM_001360.2):c.207T>C (p.T69=) - DHCR7_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.207T>C r.(?) p.(Thr69=) - Unknown - benign g.71155153A>G g.71444107A>G DHCR7(NM_001360.2):c.207T>C (p.T69=) - DHCR7_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.208G>A r.(?) p.(Gly70Ser) - Paternal (confirmed) - VUS g.71155152C>T g.71444106C>T - - DHCR7_000236 - PubMed: Alkuraya et al. 2005 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Alkuraya 2005 Patient was diagnosed with trisomy 13.; Patient described in Alkuraya et al. (2005) M ? Jamaica;Portugal;Haiti - 00y00m06d - - - 1 Division of Human Genetics, Innsbruck
+?/. - c.226G>A r.(?) p.(Val76Ile) - Parent #2 - likely pathogenic (recessive) g.71155134C>T g.71444088C>T - - DHCR7_000280 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411429 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Germany;Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - since 14 years cholesterol supplementation F ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - see paper S. Kalb et al 2010 M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Greece white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient Nr 2 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 7 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 33 from Yu et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 71 from Yu et al. 2000; Sibling from Patient 88 Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 75 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 88 from Yu et al. 2000; Sibling of Patient 71 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient H1 from Yu et al. 2000; Fibroblasts only, died before plasma or tissue could be obtained. M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient R1 from Yu et al. 2000; Fibroblasts only, died before plasma or tissue could be obtained. F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 1 from Krakowiak et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 3 from Krakowiak et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 4 from Karkowiak et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Jira 2001 Patient P12 from Jira et al. 2001 M ? United Kingdom (Great Britain) white, Scotland - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Anstey 2005 Patient 5 from Anstey et al. 2005 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Patrono 2002 Patient 1 from Patrono et al. 2002 M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 only 1 mutation described in this patient ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
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