Full data view for gene TGM1

Information The variants shown are described using the NM_000359.2 transcript reference sequence.

215 entries on 3 pages. Showing entries 1 - 100.
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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.-5530T>C r.(?) p.(=) Unknown - likely benign g.24737822A>G g.24268616A>G RABGGTA(NM_004581.5):c.904T>C (p.(Cys302Arg)) - RABGGTA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4624G>A r.(?) p.(=) Unknown - VUS g.24736916C>T - RABGGTA(NM_182836.3):c.1303G>A (p.V435M) - TGM1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5' prom c.-182C>T r.(=) p.(=) Parent #1 - VUS g.24732474C>T g.24263268G>A - - TGM1_000138 Reference to Petit 1997 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Cserhalmi-Friedman 2001 - - Germline ? - - - - DNA SEQ - - ARCI1 - PubMed: Cserhalmi-Friedman 2001 Patient 7 F - - - - - - - 1 Michel van Geel
?/? 5' prom c.-182C>T r.(=) p.(=) Both (homozygous) - VUS g.24732474C>T g.24263268G>A - - TGM1_000138 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Petit 1997 - - Germline ? - - - - DNA SEQ - - ARCI1 - PubMed: Petit 1997 Family A, 1 affected, collodion baby M yes - - - - - - 1 Michel van Geel
-/. - c.-182C>T r.(?) p.(=) Unknown - benign g.24732474G>A g.24263268G>A - - TGM1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31C>T r.(?) p.(Arg11Cys) Unknown - VUS g.24731528G>A - TGM1(NM_000359.3):c.31C>T (p.(Arg11Cys)) - TGM1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.125C>A r.(?) p.(Ser42Tyr) Paternal (confirmed) - pathogenic g.24731434G>T g.24262228G>T - - TGM1_000004 2 mutations on 1 allele PubMed: Huber 1995 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Huber 1995 Family LI-3, 2 affected - ? - - - - - - 1 Michel van Geel
-?/. - c.125C>A r.(?) p.(Ser42Tyr) Parent #1 - likely benign g.24731434G>T g.24262228G>T - - TGM1_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41295338 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.125C>A r.(?) p.(Ser42Tyr) Unknown - VUS g.24731434G>T - TGM1(NM_000359.3):c.125C>A (p.S42Y) - TGM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.157T>A r.(?) p.(Cys53Ser) Parent #1 - pathogenic g.24731402A>T g.24262196A>T - - TGM1_000024 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Patient JL F no Germany - - - - - 1 Michel van Geel
+/. - c.160C>T r.(?) p.(Arg54Ter) Unknown - pathogenic g.24731399G>A g.24262193G>A TGM1(NM_000359.3):c.160C>T (p.R54*) - TGM1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.160C>T r.(?) p.(Arg54Ter) Unknown - pathogenic g.24731399G>A - TGM1(NM_000359.3):c.160C>T (p.R54*) - TGM1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.232C>T r.(?) p.(Arg78*) Both (homozygous) - pathogenic g.24731327G>A g.24262121G>A - - TGM1_000001 - PubMed: Parmentier 1995 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Parmentier 1995 Family 3260, 2 affected - yes - - - - - - 1 Michel van Geel
+/? 2 c.281G>A r.(?) p.(Gly94Asp) Parent #2 - pathogenic g.24731278C>T g.24262072C>T - - TGM1_000042 - PubMed: Cserhalmi-Friedman 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Cserhalmi-Friedman 2001 Patient 7 F ? - - - - - - 1 Michel van Geel
+/? 2 c.305A>T r.(?) p.(Asp102Val) Maternal (confirmed) - pathogenic g.24731254T>A g.24262048T>A - - TGM1_000051 - PubMed: Yang 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Yang 2001 Family LI-LK, collodion baby M no Korea, South (Republic) - - - - - 1 Michel van Geel
+/? 3 c.374del r.(?) p.(Asn125Thrfs*15) Both (homozygous) - pathogenic g.24731036del g.24261830del 371delA - TGM1_000053 - PubMed: Akiyama 2003 - - Germline no - - - - DNA SEQ - - ARCI1 - PubMed: Akiyama 2003 Family, 2 affected F yes Japan - - - - - 1 Michel van Geel
+/? 3 c.376C>T r.(?) p.(Arg126Cys) Unknown - pathogenic g.24731033G>A g.24261827G>A - - TGM1_000064 variant associated with bathing suite ichthyosis PubMed: Oji 2006 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Oji 2006 Index patient 2 F ? Netherlands - - - - - 1 Michel van Geel
+/. - c.376C>T r.(?) p.(Arg126Cys) Unknown - pathogenic g.24731033G>A - - - TGM1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.377G>A r.(?) p.(Arg126His) Unknown - pathogenic g.24731032C>T - - - TGM1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.379C>T r.(?) p.(Arg127*) Both (homozygous) - pathogenic g.24731030G>A g.24261824G>A - - TGM1_000012 - PubMed: Huber 1997 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - PubMed: Huber 1997 Family LI-8, Collodion baby M ? Switzerland - - - - - 1 Michel van Geel
-?/. - c.383A>G r.(?) p.(Glu128Gly) Unknown - likely benign g.24731026T>C g.24261820T>C TGM1(NM_000359.2):c.383A>G (p.E128G) - TGM1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.394G>A r.(?) p.(Asp132Asn) Unknown - likely benign g.24731015C>T g.24261809C>T TGM1(NM_000359.2):c.394G>A (p.(Asp132Asn)) - TGM1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.398_407dup r.(?) p.(Tyr136Ter) Unknown - pathogenic g.24731002_24731011dup g.24261796_24261805dup - - TGM1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.408_411dup r.(?) p.(Glu138Argfs*22) Paternal (confirmed) - pathogenic g.24730998_24731001dup g.24261792_24261795dup - - TGM1_000023 - PubMed: Bichakjian 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Bichakjian 1998 Family 2 - no - white - - - - 1 Michel van Geel
+/. - c.420A>G r.(?) p.(Ile140Met) Unknown - pathogenic g.24730989T>C - TGM1(NM_000359.3):c.420A>G (p.I140M) - TGM1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.424C>T r.(?) p.(Arg142Cys) Paternal (confirmed) - pathogenic g.24730985G>A g.24261779G>A - - TGM1_000006 2 mutations on 1 allele PubMed: Huber 1995 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Huber 1995 Family LI-3, 2 affected - ? - - - - - - 1 Michel van Geel
+/. - c.424C>T r.(?) p.(Arg142Cys) Unknown - pathogenic g.24730985G>A g.24261779G>A - - TGM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.425G>A r.(?) p.(Arg142His) Both (homozygous) - pathogenic g.24730984C>T g.24261778C>T - - TGM1_000002 - PubMed: Russell 1995 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - PubMed: Russell 1995 Family I028 - yes United States - - - - - 1 Michel van Geel
+/? 3 c.425G>A r.(?) p.(Arg142His) Maternal (confirmed) - pathogenic g.24730984C>T g.24261778C>T - - TGM1_000002 - PubMed: Laiho 1997 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Laiho 1997 Family 7 M - Finland - - - - - 1 Michel van Geel
+/? 3 c.425G>A r.(?) p.(Arg142His) Unknown - pathogenic g.24730984C>T g.24261778C>T - - TGM1_000002 - PubMed: Laiho 1997 - - Unknown - - - - - DNA SEQ - - ARCI1 - PubMed: Laiho 1997 Family 9, collodion baby M - Finland - - - - - 1 Michel van Geel
+/? 3 c.425G>A r.(?) p.(Arg142His) Parent #1 - pathogenic g.24730984C>T g.24261778C>T - - TGM1_000002 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Family SU, 2 patients SU and JU - - Germany - - - - - 1 Michel van Geel
+/? 3 c.425G>A r.(?) p.(Arg142His) Unknown - pathogenic g.24730984C>T g.24261778C>T - - TGM1_000002 - PubMed: Oji 2006 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Oji 2006 - F ? Netherlands - - - - - 1 Michel van Geel
+/. - c.425G>A r.(?) p.(Arg142His) Unknown - pathogenic g.24730984C>T - - - TGM1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.425G>C r.(?) p.(Arg142Pro) Parent #2 - pathogenic g.24730984C>G g.24261778C>G - - TGM1_000043 - PubMed: Cserhalmi-Friedman 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Cserhalmi-Friedman 2001 Patient 3 F ? - - - - - - 1 Michel van Geel
+/? 3 c.427C>T r.(?) p.(Arg143Cys) Unknown - pathogenic g.24730982G>A g.24261776G>A - - TGM1_000017 - PubMed: Laiho 1997 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - PubMed: Laiho 1997 Family 8 F ? Finland - - - - - 1 Michel van Geel
+/? 3 c.427C>T r.(?) p.(Arg143Cys) Both (homozygous) - pathogenic g.24730982G>A g.24261776G>A - - TGM1_000017 - PubMed: Laiho 1997 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - - Family 1, collodion baby F - Finland - - - - - 1 Michel van Geel
+/? 3 c.427C>T r.(?) p.(Arg143Cys) Both (homozygous) - pathogenic g.24730982G>A g.24261776G>A - - TGM1_000017 - PubMed: Laiho 1997 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - - Family 2, Collodion baby F - Finland - - - - - 1 Michel van Geel
+/? 3 c.427C>T r.(?) p.(Arg143Cys) Unknown - pathogenic g.24730982G>A g.24261776G>A - - TGM1_000017 - PubMed: Laiho 1997 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - - Family 3, 3 affected, collodion baby - - Finland - - - - - 1 Michel van Geel
+/? 3 c.427C>T r.(?) p.(Arg143Cys) Unknown - pathogenic g.24730982G>A g.24261776G>A - - TGM1_000017 - PubMed: Laiho 1997 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - - Family 4, collodion baby M - Finland - - - - - 1 Michel van Geel
+/? 3 c.427C>T r.(?) p.(Arg143Cys) Paternal (confirmed) - pathogenic g.24730982G>A g.24261776G>A - - TGM1_000017 - PubMed: Laiho 1997 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - - Family 5, collodion baby M - Finland - - - - - 1 Michel van Geel
+/? 3 c.427C>T r.(?) p.(Arg143Cys) Maternal (confirmed) - pathogenic g.24730982G>A g.24261776G>A - - TGM1_000017 - PubMed: Laiho 1997 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - - Family 6, 2 affected, collodion baby - - Finland - - - - - 1 Michel van Geel
+/? 3 c.427C>T r.(?) p.(Arg143Cys) Paternal (confirmed) - pathogenic g.24730982G>A g.24261776G>A - - TGM1_000017 - PubMed: Laiho 1997 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - PubMed: Laiho 1997 Family 7 M - Finland - - - - - 1 Michel van Geel
+/? 3 c.428G>A r.(?) p.(Arg143His) Both (homozygous) - pathogenic g.24730981C>T g.24261775C>T - - TGM1_000003 - PubMed: Russell 1995 - - Germline yes - mvangeel - - DNA SEQ - - ARCI1 - PubMed: Russell 1995 Family D455 - yes Egypt - - - - - 1 Michel van Geel
+/? 3 c.430G>A r.(?) p.(Gly144Arg) Parent #1 - pathogenic g.24730979C>T g.24261773C>T - - TGM1_000027 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Family JL M ? Germany - - - - - 1 Michel van Geel
+/? 3 c.430G>A r.(?) p.(Gly144Arg) Both (homozygous) - pathogenic g.24730979C>T g.24261773C>T 1494G>A - TGM1_000027 - PubMed: Yotsumoto 2000 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Yotsumoto 2000 - F no Japan - - - - - 1 Michel van Geel
+/? ? c.431G>A r.(?) p.(Gly144Glu) Both (homozygous) - pathogenic g.24730978C>T g.24261772C>T - - TGM1_000020 - PubMed: Petit 1997 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Petit 1997 Patient 1, collodion baby F yes - - - - - - 1 Michel van Geel
+/. - c.431G>A r.(?) p.(Gly144Glu) Unknown - pathogenic g.24730978C>T - - - TGM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.479C>G r.(?) p.(Ser160Cys) Parent #2 - pathogenic g.24730930G>C g.24261724G>C - - TGM1_000044 - PubMed: Cserhalmi-Friedman 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Cserhalmi-Friedman 2001 Patient 6 F ? - - - - - - 1 Michel van Geel
+/? 3 c.498_499ins4 r.? p.? Parent #2 - pathogenic g.24730910_24730911ins4 - 498ins4 - TGM1_000137 RefSeq not mentioned, cDNA position unclear PubMed: Cserhalmi-Friedman 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Cserhalmi-Friedman 2001 Patient 4 M - - - - - - - 1 Michel van Geel
?/. - c.566G>A r.(?) p.(Gly189Asp) Unknown - VUS g.24729847C>T - TGM1(NM_000359.3):c.566G>A (p.G189D) - TGM1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.607C>T r.0 p.0 Both (homozygous) - pathogenic g.24729806G>A g.24260600G>A - - TGM1_000123 no detectable RNA in skin fibroblasts PubMed: Cao 2009 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ARCI1 - PubMed: Cao 2009 2-generation family, unaffected carrier parents, has affected younger brother (deceased) M ? China - - - - - 1 Michel van Geel
+/? 4 c.614T>A r.(?) p.(Leu205Gln) Paternal (inferred) - pathogenic g.24729799A>T g.24260593A>T - - TGM1_000049 - PubMed: Akiyama 2001 - - Unknown yes - - - - DNA SEQ - - ARCI1 - PubMed: Akiyama 2001 - F no Japan - - - - - 1 Michel van Geel
+/? 4 c.652G>A r.(?) p.(Gly218Ser) Unknown - pathogenic g.24729761C>T g.24260555C>T - - TGM1_000018 - PubMed: Laiho 1997 - - Unknown - - mvangeel - - DNA SEQ - - ARCI1 - PubMed: Laiho 1997 Family 12, collodion baby F ? Finland - - - - - 1 Michel van Geel
+/? 4 c.674G>A r.(?) p.(Arg225His) Parent #1 - pathogenic g.24729739C>T g.24260533C>T - - TGM1_000028 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Family AW, patients AW and PW, collodion babies - no Germany - - - - - 1 Michel van Geel
-/. - c.726G>A r.(?) p.(Glu242=) Unknown - benign g.24729687C>T g.24260481C>T - - TGM1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.746C>T r.(?) p.(Pro249Leu) Maternal (confirmed) - pathogenic g.24729667G>A g.24260461G>A - - TGM1_000031 - PubMed: Tok 1999 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Tok 1999 Family 2, collodion baby M no Italy - - - - - 1 Michel van Geel
+/? 4i c.757+1G>T r.spl p.? Maternal (confirmed) - pathogenic g.24729655C>A g.24260449C>A - - TGM1_000125 - PubMed: Cao 2009 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Cao 2009 2-generation family, 1 affected, unaffected carrier parents M ? China - - - - - 1 Michel van Geel
+/+ 5 c.760G>A r.(?) p.(Asp254Asn) Paternal (confirmed) - pathogenic g.24729262C>T g.24260056C>T - - TGM1_000124 - PubMed: Cao 2009 - - Germline ? - - - - DNA SEQ - - ARCI1 - PubMed: Cao 2009 3-generation family, 2 affected brothers, unaffected carrier parents M yes China - - - - - 2 Michel van Geel
+/+ 5 c.788G>A r.(?) p.(Trp263*) Both (homozygous) - pathogenic g.24729234C>T g.24260028C>T - - TGM1_000025 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Patient SH M yes Tunisia - - - - - 1 Michel van Geel
+/? 5 c.788G>A r.(?) p.(Trp263*) Parent #2 - pathogenic g.24729234C>T g.24260028C>T - - TGM1_000025 - PubMed: Cserhalmi-Friedman 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - - Patient 1 M - - - - - - - 1 Michel van Geel
+/. - c.788G>A r.(?) p.(Trp263Ter) Unknown - pathogenic g.24729234C>T g.24260028C>T - - TGM1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.790C>T r.(?) p.(Arg264Trp) Unknown - pathogenic g.24729232G>A g.24260026G>A - - TGM1_000065 variant associated with bathing suit ichthyosis PubMed: Oji 2006 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Oji 2006 Index patient 3 M ? Germany - - - - - 1 Michel van Geel
+/. - c.791G>A r.(?) p.(Arg264Gln) Unknown - pathogenic g.24729231C>T - TGM1(NM_000359.3):c.791G>A (p.R264Q) - TGM1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.814T>C r.(?) p.(Ser272Pro) Maternal (confirmed) - pathogenic g.24729208A>G g.24260002A>G - - TGM1_000048 - PubMed: Esposito 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Esposito 2001 Family LI II F no Italy - - - - - 1 Michel van Geel
+/? 5 c.826T>A r.(?) p.(Tyr276Asn) Both (homozygous) - pathogenic g.24729196A>T g.24259990A>T - - TGM1_000067 variant associated with bathing suite ichthyosis PubMed: Oji 2006 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Oji 2006 Index patient 1 M yes Turkey - - - - - 1 Michel van Geel
+/? 5 c.832G>A r.(?) p.(Gly278Arg) Paternal (confirmed) - pathogenic g.24729190C>T g.24259984C>T 3400G>A - TGM1_000139 - PubMed: Raghunath 2003 - - Germline yes - - - - DNA SEQ - - ARCI2 - PubMed: Raghunath 2003 LI Family, patients V.S. and N.S., self-healing collodion babies F no Yugoslavia Albanian - - - - 1 Michel van Geel
+/? 5 c.832G>C r.(?) p.(Gly278Arg) Parent #1 - pathogenic g.24729190C>G g.24259984C>G - - TGM1_000045 - PubMed: Cserhalmi-Friedman 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Cserhalmi-Friedman 2001 Patient 5 M ? - - - - - - 1 Michel van Geel
+/? 5 c.857G>A r.(?) p.(Arg286Gln) Parent #2 - pathogenic g.24729165C>T g.24259959C>T - - TGM1_000046 - PubMed: Cserhalmi-Friedman 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Cserhalmi-Friedman 2001 Patient 5 M ? - - - - - - 1 Michel van Geel
+/? 5 c.866A>C r.(?) p.(Asn289Thr) Maternal (confirmed) - pathogenic g.24729156T>G g.24259950T>G - - TGM1_000052 - PubMed: Yang 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Yang 2001 Family LI-KD, collodion baby F no Japan - - - - - 1 Michel van Geel
+/. - c.871G>A r.(?) p.(Gly291Ser) Parent #2 - pathogenic (recessive) g.24729151C>T g.24259945C>T - - TGM1_000122 - - - - Germline - - - - - DNA SEQ-NG - - ARCI1 2 - - F - China - - - - - 1 Sha Hong
+/? 5i c.877-2A>G r.spl? p.? Maternal (confirmed) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Huber 1997 - - Germline - - - - - DNA SEQ - - ARCI1 - - Family LI-22, collodion baby M - United States - - 1 - - 1 Michel van Geel
+/? 5i c.877-2A>G r.876_877ins876+1_877-1 p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Huber 1995 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Huber 1995 Family LI-2, 2 affected - - - - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Parent #2 - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Patient JL F no Germany - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Family SW F no Germany - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Parent #2 - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Family PB, patients PB and EB, collodion babies M no Germany - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Parent #2 - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Family JL M - Germany - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Family VB, collodion baby F - Germany - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Parent #2 - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Hennies 1998 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Hennies 1998 Family SU, patients SU and JU - - Germany - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Parent #1 - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Cserhalmi-Friedman 2001 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Cserhalmi-Friedman 2001 Patient 4 M - - - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 2000 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 2000 Family 2 F - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Petit 1997 - - Germline yes - - - - DNA SEQ - - ARCI1 - PubMed: Petit 1997 Patient 2, collodion baby F yes - - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.876_877insG p.(Asn294*) Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR1 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR2 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR4 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR5 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Paternal (confirmed) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR6 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR9 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline no - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR12 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.876_877insG p.(Asn294*) Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR13 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR19 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR20 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR24 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR25 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.876_877insG p.(Asn294*) Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR26 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Maternal (confirmed) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR27 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR31 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 de novo mutation on maternal allele PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR32 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR33 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR39 - - Norway - - - - - 1 Michel van Geel
+/? 5i c.877-2A>G r.spl? p.? Both (homozygous) - pathogenic g.24729019T>C g.24259813T>C - - TGM1_000133 - PubMed: Pigg 1998 - - Germline yes - - - - DNA PCRdig - - ARCI1 - PubMed: Pigg 1998 IR40 - - Norway - - - - - 1 Michel van Geel
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