All transcript variants in gene SDHB

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_003000.2 transcript reference sequence.

396 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 c.-54121_73-4014del - r.0? p.0? g.17375397_17434635del g.17048902_17108140del SDHB Del promoter + exon 1, 59238bp - SDHB_000246 Jugular PGL PubMed: Hoekstra - - Germline ? - - 0 - Jean-Pierre Bayley
+?/+ 1 c.-16418_73-5173del - r.? p.? g.17376556_17396932del g.17050061_17070437del exon 1 deletion (20kb) - SDHB_000132 - PubMed: Cascon,PubMed: Cascon - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 1 c.-16416_72+3877del - r.? p.? g.17376566_17396930del g.17050071_17070435del exon 1 deletion (20kb) - SDHB_000193 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 1 c.-10413_73-3866del - r.? p.? g.17375249_17390927del g.17048754_17064432del deletion of exon 1 (16kb) - SDHB_000131 15680 bp del incl. exon 1 PubMed: Solis, PubMed: Cascon, PubMed: Cascon, PubMed: Cascon - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 1 c.-10413_73-3866del - r.? p.? g.17375249_17390927del g.17048754_17064432del deletion of SDHB exon 1 (16kb) - SDHB_000131 15680 bp del, incl. exon 1 PubMed: Cascon - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.-8570_201-1396del - r.(=) p.(=) g.17361036_17389084del g.17034541_17062589del SDHB Del promoter + exon 1+2, 28199bp - SDHB_000248 - PubMed: Hoekstra - - Germline ? - - 0 - Jean-Pierre Bayley
+?/+? 1 c.-516_72+333del - r.? p.? g.17380110_17381030del g.17053615_17054535del - - SDHB_000247 3019bp deletion PubMed: Hoekstra - - Germline ? - - 0 - Jean-Pierre Bayley
?/-? 1 c.-198G>A - r.(=) p.(=) g.17380712C>T g.17054217C>T 5’ UTR - SDHB_000192 Allelic freq: controls 1/188; patients 1/646 PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
?/. 1 c.-2651_(72+1_73-1)del - r.? p.? g.(17371384_17380442)_17383165del - 15678bp deletion in the SDHB gene, which encompasses the promoter and exon 1. - SDHB_000245 - PubMed: Martins PubMed: Weber - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 1 c.-2651_(72+1_73-1)dup - r.? p.? g.(17371384_17380442)_17383165dup - Duplication, c.(?_ ? 151)_72 +? - SDHB_000273 - PubMed: Persu - - Unknown - - - 0 - Jean-Pierre Bayley
+/+ 1 c.(?_-151)_(72+1_73-1)del - r.spl? p.? g.(17371384_17380442)_(17380665_?)del - Deletion Exon 1 - SDHB_000166 - PubMed: Neumann, PubMed: Lodish - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 1 c.(?_-151)_(72+1_73-1)del - r.spl? p.? g.(17371384_17380442)_(17380665_?)del - Deletion Exon 1 (1 kb?) - SDHB_000007 0/5 controls PubMed: Amar, PubMed: McWhinney - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 1 c.(?_-151)_(72+1_73-1)del - r.spl? p.? g.(17371384_17380442)_(17380665_?)del - exon 1 deletion (2.5kb) - SDHB_000007 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.(?_-151)_(72+1_73-1)del - r.spl? p.? g.(17371384_17380442)_(17380665_?)del - c.-1-?_72+?del - SDHB_000007 - PubMed: Bennedbaek - - Germline ? - - 0 - Jean-Pierre Bayley
+/+ 1_2i c.(?_-151)_(200+1_201-1)del - r.spl? p.? g.(17359641_17371255)_(17380665_?)del - - - SDHB_000202 deletion of exons 1 + 2 PubMed: Kodama - - Germline - - - 0 - Jean-Pierre Bayley
+/. 1_2i c.(?_-151)_(200+1_201-1)del - r.? p.? g.(17359641_17371255)_(17380665_?)del - c.[-?_200+?del];[=] - SDHB_000202 - PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 1_7i c.(?_-151)_(765+1_766-1)del - r.? p.? g.(17345454_17349102)_(17380665_?)del - Deletion of exon 1 - 7 - SDHB_000280 - PubMed: Buffet - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 1_8 c.(?_-151)_(*159_?)del - r.? p.? g.(?_17345217)_(17380665_?)del - whole SDHB gene deletion - SDHB_000087 - PubMed: Cascon - - Unknown - - - 0 - Jean-Pierre Bayley
+/+ 1_8 c.(?_-151)_(*159_?)del - r.? p.? g.(?_17345217)_(17380665_?)del - Deletion Exon 1-8 - SDHB_000167 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 1_8 c.(?_-151)_(*159_?)del - r.? p.? g.(?_17345217)_(17380665_?)del - whole SDHB gene deletion - SDHB_000196 - PubMed: Armstrong - - Germline - - - 0 - Jean-Pierre Bayley
-/-? 1 c.-139G>T - r.(=) p.(=) g.17380653C>A g.17054158C>A '5 UTR - SDHB_000119 located in '5 UTR, Allelic freq controls 1/188; patients 2/646 PubMed: Burnichon - - Germline - - - 0 - Janneke Weiss
-/-? 1 c.-139G>T - r.(=) p.(=) g.17380653C>A g.17054158C>A '5 UTR - SDHB_000119 located in '5 UTR, Allelic freq controls 1/188; patients 2/646 - - - Unknown - - - 0 - Janneke Weiss
-/. - c.-139G>T benign r.(=) p.(=) g.17380653C>A - SDHB:c.-139G>T - SDHB_000119 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.-33G>T likely benign r.(=) p.(=) g.17380547C>A - SDHB:c.-33G>T - SDHB_000295 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/? 1 c.-6G>A - r.(=) p.(=) g.17380520C>T g.17054025C>T 5' UTR - SDHB_000149 - - - - Unknown - - - 0 - Kazumasa Isobe
+/+ 1 c.3G>A - r.? p.? g.17380512C>T g.17054017C>T - - SDHB_000154 - PubMed: Neumann, PubMed: Piccini - - Germline - - - 0 - Jean-Pierre Bayley
?/-? 1 c.8C>G - r.(?) p.(Ala3Gly) g.17380507G>C g.17054012G>C - - SDHB_000130 Freq controls 0/1400 chromosomes, tolerated by SIFT analysis, conserved. PubMed: Ni - - Germline - 1.1%/8.5% - 0 - Jean-Pierre Bayley
?/-? 1 c.8C>G - r.(?) p.(Ala3Gly) g.17380507G>C g.17054012G>C - - SDHB_000130 Allelic freq: controls 2/188; patients 1/646 Burnichon - submitted - rs11203289 Germline - 1.1% - 0 - Jean-Pierre Bayley
?/. 1 c.8_59del - r.(?) p.(Ala3Glufs*57) g.17380456_17380507del g.17053961_17054012del Deletion of exon 1 - SDHB_000275 - PubMed: Buffet - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 1 c.17_35del - r.(?) p.(Ala6Glyfs*65) g.17380480_17380498del g.17053985_17054003del p.Ala6fs - SDHB_000109 - PubMed: Amar - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 1 c.17_35del - r.(?) p.(Ala6Glyfs*65) g.17380480_17380498del g.17053985_17054003del p.Ala6GlyfsX65 - SDHB_000109 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
?/. 1 c.17_42dup - r.(?) p.(Ala15Profs*4) g.17380473_17380498dup26 g.17053978_17054003dup c. 17_42dup26, c.17_42dup - SDHB_000276 - PubMed: Jafri, PubMed: Miettinen - - Unknown - - - 0 - Jean-Pierre Bayley
?/-? 1 c.18C>A - r.(=) p.(=) g.17380497G>T g.17054002G>T p.Ala6Ala - SDHB_000008 - PubMed: Cascon, PubMed: McWhinney, PubMed: Morris, PubMed: Grau, PubMed: Brouwers, PubMed: Castellano, PubMed: Lima - - Germline - 3.5% - 0 - Jean-Pierre Bayley
-/. - c.18C>A benign r.(=) p.(=) g.17380497G>T - SDHB:NM_003000.2:c.18C>A (=) - SDHB_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 1 c.20_22delinsC - r.(?) p.(Leu7Profs*55) g.17380493_17380495delinsG g.17053998_17054000delinsG - - SDHB_000191 - - - - Unknown - - - 0 - Yang Zha
?/-? 1 c.21C>T - r.(=) p.(=) g.17380494G>A g.17053999G>A p.Leu7Leu - SDHB_000009 - PubMed: Cascon - - Unknown - - - 0 - Jean-Pierre Bayley
-/. - c.21C>T benign r.(=) p.(=) g.17380494G>A - SDHB:c.21C>T (=) - SDHB_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.21C>T benign r.(=) p.(=) g.17380494G>A - SDHB:c.21C>T (=) - SDHB_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/+ 1 c.21del - r.(?) p.(Ser8Profs*2) g.17380494del g.17053999del 155 delC (Frameshift) - SDHB_000010 - PubMed: Neumann - - Unknown - - - 0 - Jean-Pierre Bayley
?/? 1 c.23C>T - r.(?) p.(Ser8Phe) g.17380492G>A g.17053997G>A S8F - SDHB_000059 poorly conserved aa, polymorphism? PubMed: Castellano - - Unknown - - - 0 - Jean-Pierre Bayley
-/. - c.24C>T - r.(=) p.(=) g.17380491G>A g.17053996G>A - - SDHB_000011 - - - rs148738139 Germline - MAF A=0,007 - 0 - Andreas Laner
?/- 1 c.24C>T - r.(=) p.(=) g.17380491G>A g.17053996G>A p.Ser8Ser - SDHB_000011 - PubMed: Bayley - - Unknown - 1.0% - 0 - Jean-Pierre Bayley
-/. - c.24C>T benign r.(=) p.(=) g.17380491G>A - SDHB:c.24C>T (=) - SDHB_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.24C>T likely benign r.(=) p.(=) g.17380491G>A - SDHB:c.24C>T (=) - SDHB_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.24C>T benign r.(=) p.(=) g.17380491G>A - SDHB:NM_003000.2:c.24C>T (=) - SDHB_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? 1 c.32G>A - r.(?) p.(Arg11His) g.17380483C>T g.17053988C>T R11H - SDHB_000141 0/600 chromosomes PubMed: Ricketts - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 1 c.44_45dup - r.(?) p.(Thr16Profs*62) g.17380470_17380471dup g.17053975_17053976dup - - SDHB_000113 - PubMed: Pasini - - Germline - - - 0 - Jean-Pierre Bayley
?/-? 1 c.49A>G - r.(?) p.(Thr17Ala) g.17380466T>C g.17053971T>C - - SDHB_000221 - - - - Unknown - - - 0 - Rita Domingues
+/+ 1 c.49del - r.(?) p.(Thr17Profs*60) g.17380466del g.17053971del - - SDHB_000155 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
-/- 1 c.65G>C - r.(?) p.(Cys22Ser) g.17380450C>G g.17053955C>G C22S - SDHB_000215 - PubMed: Baysal - - Germline - - - 0 - Jean-Pierre Bayley
?/. 1 c.70C>T - r.(?) p.(Gln24*) g.17380445G>A g.17053950G>A - - SDHB_000274 - PubMed: Lefebvre - - Unknown - - - 0 - Jean-Pierre Bayley
?/+? 1i c.72+1G>A - r.spl? p.(=) g.17380442C>T g.17053947C>T Splicesite - SDHB_000171 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1i c.72+1G>C - r.spl? p.? g.17380442C>G g.17053947C>G Splice - SDHB_000205 - PubMed: Ricketts - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 1i c.72+1G>T - r.spl? p.(=) g.17380442C>A g.17053947C>A (IVS1) Abberant splicing? - SDHB_000065 - PubMed: Benn, PubMed: Elston, PubMed: Brouwers, PubMed: Pasini, PubMed: Srirangalingam, PubMed: Housley, PubMed: Lodish - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? 1i c.72+1G>T - r.spl? p.(=) g.17380442C>A g.17053947C>A - - SDHB_000065 - PubMed: Gill - - Germline - - - 0 - Jean-Pierre Bayley
?/-? 1i c.73-111G>A - r.(=) p.(=) g.17371494C>T g.17044999C>T (IVS1) - SDHB_000013 - PubMed: Benn, PubMed: Opocher, PubMed: Castellano - - Unknown - 36% - 0 - Jean-Pierre Bayley
?/-? 1i c.73-29del - r.(=) p.(=) g.17371412del g.17044917del (IVS1) - SDHB_000012 - PubMed: Benn - - Unknown - 1.0% - 0 - Jean-Pierre Bayley
?/- 1i c.73-9A>G - r.spl? p.(=) g.17371392T>C g.17044897T>C (IVS1) - SDHB_000093 Polymorphism? PubMed: Brouwers - - Unknown - - - 0 - Jean-Pierre Bayley
+/. - c.73-8A>G - r.(=) p.(=) g.17371391T>C g.17044896T>C - - SDHB_000237 (IVS1) - - - Germline - - - 0 - Andreas Laner
+/+ 2 c.73_76del - r.(?) p.(Ala25Profs*51) g.17371380_17371383del g.17044885_17044888del - - SDHB_000156 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
+/. 1i_2i c.(72+1_73-1)_(200+1_201-1)del - r.(?) p.(Ala25Metfs*13) g.(17359641_17371255)_(17371384_17380442)del - Deletion of exon 2, c.[73-?_200+?del];[=] - SDHB_000268 - PubMed: Casey, PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
+/. 1i_7i c.(72+1_73-1)_(765+1_766-1)del - r.(?) p.(Ala25_Lys255del) g.(17345454_17349102)_(17371384_17380442)del - c.[73-?_765+?del];[=] - SDHB_000279 - PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 1i_8 c.(72+1_73-1)_(*159_?)del - r.spl? p.? g.(?_17345217)_(17371384_17380442)del - Deletion Exon 3-8 (del exon 2-8?) - SDHB_000110 - PubMed: Amar - - Germline - - - 0 - Jean-Pierre Bayley
?/-? 2 c.79C>G - r.(?) p.(Arg27Gly) g.17371377G>C g.17044882G>C - - SDHB_000223 - PubMed: Ni - - Germline - 1.8% - 0 - Jean-Pierre Bayley
?/+ 2 c.79C>T - r.(?) p.(Arg27*) g.17371377G>A g.17044882G>A CGA>TGA (R27X), C213T (Arg>Stop) - SDHB_000006 Finland, Spain, LOH in tumor PubMed: Naito, PubMed: Cascon, PubMed: Neumann, PubMed: Neumann, PubMed: Vanharanta, PubMed: Klein - - Unknown - - - 0 - Jean-Pierre Bayley
+/+ 2 c.79C>T - r.(?) p.(Arg27*) g.17371377G>A g.17044882G>A CGA>TGA - SDHB_000150 - PubMed: Naito - - Unknown - - - 0 - Takeshi Usui
?/+ 2 c.79del - r.(?) p.(Arg27Glufs*50) g.17371377del g.17044882del 79delC/S26fs - SDHB_000014 - PubMed: Badenhop - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 2 c.80G>A - r.(?) p.(Arg27Gln) g.17371376C>T g.17044881C>T - - SDHB_000272 LOH, but no loss of expression PubMed: Dénes - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 2 c.86_92delinsGG - r.(?) p.(Ala29Glyfs*32) g.17371364_17371370delinsCC g.17044869_17044875delinsCC Frameshift & early stop in exon 2 - SDHB_000271 - PubMed: Buffet - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 2 c.88del - r.(?) p.(Gln30Argfs*47) g.17371368del g.17044873del c.88delC (Frameshift) - SDHB_000017 - PubMed: Benn - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 2 c.88del - r.(?) p.(Gln30Argfs*47) g.17371368del g.17044873del c.88delC (Frameshift) - SDHB_000017 - PubMed: Prasad 2009 - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 2 c.88del - r.(?) p.(Gln30Argfs*47) g.17371368del g.17044873del p.Gln30ArgfsX7 - SDHB_000017 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 2 c.88_89insCAGC - r.(?) p.(Gln30Profs*34) g.17371367_17371368insGCTG g.17044872_17044873insGCTG 221insCCAG (Frameshift) - SDHB_000016 - PubMed: Neumann - - Unknown - - - 0 - Jean-Pierre Bayley
?/-? 2 c.88_90dup - r.(?) p.(Gln30dup) g.17371366_17371368dup g.17044871_17044873dup 221ins CAG (Codon 29, ins to Gln) - SDHB_000015 poorly conserved region PubMed: Neumann - - Unknown - - - 0 - Jean-Pierre Bayley
?/. - c.106G>A VUS r.(?) p.(Ala36Thr) g.17371350C>T - SDHB:NM_003000.2:c.106G>A - SDHB_000294 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.107C>T VUS r.(?) p.(Ala36Val) g.17371349G>A - SDHB:NM_003000.2:c.107C>T - SDHB_000293 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/+ 2 c.112_113ins2? - r.(?) p.Arg38Profs*40 g.17371343_17371344ins2? - - - SDHB_000218 - PubMed: Lodish - - Germline - - - 0 - Jean-Pierre Bayley
?/? 2 c.118A>G - r.(?) p.(Lys40Glu) g.17371338T>C g.17044843T>C c.118A>G (K40E) - SDHB_000018 0/50 controls, highly conserved PubMed: McDonnell - - Unknown - - - 0 - Jean-Pierre Bayley
?/? 2 c.127G>C - r.(?) p.(Ala43Pro) g.17371329C>G g.17044834C>G g261c (A43P) - SDHB_000019 - PubMed: Gimenez-Roqueplo, PubMed: Amar - - Unknown - - - 0 - Jean-Pierre Bayley
?/? 2 c.127G>C - r.(?) p.(Ala43Pro) g.17371329C>G g.17044834C>G p.Ala43Pro - SDHB_000019 LOH at SDHB locus; SDH activity=0; SDHB protein expression=0 PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 2 c.131T>A - r.(?) p.(Ile44Asn) g.17371325A>T g.17044830A>T c.T282A—Ile44Asn - SDHB_000229 - PubMed: Celestino - - Germline - - - 0 - Jean-Pierre Bayley
?/? 2 c.136C>G - r.(?) p.(Arg46Gly) g.17371320G>C g.17044825G>C 270C/G (Arg>Gly), C270G (R46G) - SDHB_000020 0/300 controls PubMed: Neumann, PubMed: Neumann, PubMed: Gimenez-Roqueplo - - Unknown - - - 0 - Jean-Pierre Bayley
?/? 2 c.136C>G - r.(?) p.(Arg46Gly) g.17371320G>C g.17044825G>C p.Arg46Gly - SDHB_000020 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 2 c.136C>T - r.(?) p.(Arg46*) g.17371320G>A g.17044825G>A c.136C>T (R46X) - SDHB_000021 - PubMed: Benn, PubMed: Benn, PubMed: Bayley, PubMed: Brouwers, PubMed: Srirangalingam, PubMed: Ricketts, PubMed: Ghayee, PubMed: Lodish - - Unknown - - - 0 - Jean-Pierre Bayley
?/? 2 c.136C>T - r.(?) p.(Arg46*) g.17371320G>A g.17044825G>A p.Arg46X - SDHB_000021 - PubMed: Burnichon, PubMed: Timmers - - Germline - - - 0 - Jean-Pierre Bayley
?/? 2 c.137G>A - r.(?) p.(Arg46Gln) g.17371319C>T g.17044824C>T g271a (R46Q), c.137G>A (R46Q) - SDHB_000022 0/50 controls, Italy, and other countries PubMed: Gimenez-Roqueplo, PubMed: Gimenez-Roqueplo, PubMed: Allibhai, PubMed: Benn, PubMed: Amar, PubMed: Benn, PubMed: Castellano, PubMed: Takekoshi - - Unknown - - - 0 - Jean-Pierre Bayley
?/? 2 c.137G>A - r.(?) p.(Arg46Gln) g.17371319C>T g.17044824C>T p.Arg46Gln - SDHB_000022 - PubMed: Burnichon, PubMed: Timmers - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 2 c.141G>A - r.(?) p.(Trp47*) g.17371315C>T g.17044820C>T - - SDHB_000023 - PubMed: Bayley, PubMed: Srirangalingam, PubMed: Tuthill - - Unknown - - - 0 - Jean-Pierre Bayley
+/+ 2 c.143A>T - r.(?) p.(Asp48Val) g.17371313T>A g.17044818T>A p.(Asp48Val) - SDHB_000244 Lowered levels on SDH histochemistry and low levels of SDHB protein PubMed: Alston - - Germline yes - - 0 - Jean-Pierre Bayley
./. - c.143A>T - r.(?) p.(Asp48Val) g.17371313T>A g.17044818T>A - - SDHB_000244 Reduced SDHB (and SDHA) protein levels, CII activity around 20% PubMed: Ardissone - - Germline yes - - 0 - Jean-Pierre Bayley
+?/. - c.143A>T likely pathogenic r.(?) p.(Asp48Val) g.17371313T>A - SDHB:NM_003000.2:c.143A>T - SDHB_000244 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 2 c.154del - r.(?) p.(Ala52Leufs*25) g.17371302del g.17044807del - - SDHB_000270 - PubMed: Lefebvre - - Unknown - - - 0 - Jean-Pierre Bayley
?/? 2 c.157G>A - r.(?) p.(Gly53Arg) g.17371299C>T g.17044804C>T 291G/A (Gly53>Arg) - SDHB_000024 0/300 controls PubMed: Neumann - - Unknown - - - 0 - Jean-Pierre Bayley
-?/-? 2 c.158G>A - r.(?) p.(Gly53Glu) g.17371298C>T g.17044803C>T - - SDHB_000214 France (tumor SDHB IHC pos+) PubMed: Ricketts, PubMed: Burnichon - - Germline - 0.14% - 0 - Jean-Pierre Bayley
?/. 2 c.158G>A - r.(?) p.(Gly53Glu) g.17371298C>T g.17044803C>T - - SDHB_000214 - PubMed: Burnichon - - Unknown - - - 0 - Jean-Pierre Bayley
?/. - c.158G>A VUS r.(?) p.(Gly53Glu) g.17371298C>T - SDHB:c.158G>A (G53E) - SDHB_000214 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/+ 2 c.166_170del - r.(?) p.(Pro56Tyrfs*5) g.17371286_17371290del g.17044791_17044795del 300-4 del CCTCA (Frameshift) - SDHB_000025 - PubMed: Cascon, PubMed: Amar, PubMed: Neumann, PubMed: Mora, PubMed: Klein, PubMed: Persu, PubMed: Hermsen - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 2 c.166_170del - r.(?) p.(Pro56Tyrfs*5) g.17371286_17371290del g.17044791_17044795del p.Pro56TyrfsX5 - SDHB_000025 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+?/? 2 c.166_170del - r.(?) p.(Pro56Tyrfs*5) g.17371286_17371290del g.17044791_17044795del - - SDHB_000025 - PubMed: Gill - - Germline - - - 0 - Jean-Pierre Bayley
+/. 2 c.166_170del - r.(?) p.(Pro56Tyrfs*5) g.17371286_17371290del g.17044791_17044795del 300-4delCCTCA - SDHB_000025 - - - - Germline ? - - 0 - Gabriela Sanso
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