Full data view for gene RAB39B

Information The variants shown are described using the NM_171998.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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     
+/. _1_2_ c.-279_*2562[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - - - DNA arraySNP - - PARK FamAusPatII2 PubMed: Wilsoni 2014 PatII2 M - Australia - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-279_*2562[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - - - DNA arraySNP - - PARK FamAusPatII1 PubMed: Wilsoni 2014 PatII1 M - Australia - - - - - 1 Johan den Dunnen
./. - c.-228856_*924247dup - - Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.-229G>A r.(?) p.(=) Maternal (inferred) - VUS g.154493802C>T g.155264517C>T - - RAB39B_000009 - PubMed: Gao 2020 - - Unknown - - - - - DNA SEQ - - PARK - PubMed: Gao 2020 - M - Australia - - - - - 1 Yujing Gao
+/. _1_2_ c.-279_*2562[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - - - DNA arraySNP - - PARK FamAusPatII3 PubMed: Wilsoni 2014 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M - Australia - - - - - 3 Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) Maternal (inferred) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010 - rs267606995 Germline yes - - - - DNA SEQ - - MRX;IDX 20159109-FamXPatII3 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 3-generation family, 6 affecteds (four brothers and two maternal uncles), unaffected carrier females M no - - - - - - 6 Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) Maternal (inferred) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0002 - rs267606995 Germline yes - - - - DNA SEQ - - MRX;IDX 20159109-FamXPatII4 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 brother of PatII4 M no - - - - - - 1 Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) Maternal (inferred) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0002 - rs267606995 Germline yes - - - - DNA SEQ - - MRX;IDX 20159109-FamXPatII1 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4 M no - - - - - - 1 Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) Maternal (inferred) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0002 - rs267606995 Germline yes - - - - DNA SEQ - - MRX;IDX 20159109-FamXPatII2 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1 M no - - - - - - 1 Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) Maternal (inferred) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0002 - rs267606995 Germline yes - - - - DNA SEQ - - MRX;IDX 20159109-FamXPatII3 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1 M no - - - - - - 1 Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) Maternal (inferred) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0002 - rs267606995 Germline yes - - - - DNA SEQ - - MRX;IDX 20159109-FamXPatII4 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1, twin of PatIII3 M no - - - - - - 1 Johan den Dunnen
?/. - c.188G>C r.(?) p.(Trp63Ser) Unknown - VUS g.154493386C>G g.155264101C>G - - RAB39B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.215G>T r.[106_215del,=] p.[Val36IlefsTer18,Arg72Ile] Unknown - likely pathogenic g.154493359C>A g.155264074C>A - - RAB39B_000021 effect on RNA exclusion of exon - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
?/. - c.215G>T r.(?) p.(Arg72Ile) Unknown - VUS g.154493359C>A - RAB39B(NM_171998.3):c.215G>T (p.R72I) - RAB39B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.215+1G>A r.-234_215del p.? Maternal (inferred) - pathogenic g.154493358C>T g.155264073C>T - - RAB39B_000003 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0001 - rs587776734 Germline yes - - - - DNA, RNA SEQ, RT-PCR - - MRX;IDX 20159109-FamMRX72PatIII9 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 4-generation family, 8 affecteds M no Italy - - - - - 8 Johan den Dunnen
+/. 1i c.215+1G>A r.spl p.? Maternal (inferred) - pathogenic g.154493358C>T g.155264073C>T - - RAB39B_000003 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0001 - rs587776734 Germline yes - - - - DNA SEQ - - MRX;IDX 20159109-FamMRX72PatIII4 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1 M no Italy - - - - - 1 Johan den Dunnen
+/. 1i c.215+1G>A r.spl p.? Maternal (inferred) - pathogenic g.154493358C>T g.155264073C>T - - RAB39B_000003 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0001 - rs587776734 Germline yes - - - - DNA SEQ - - MRX;IDX 20159109-FamMRX72PatIII5 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1 M no Italy - - - - - 1 Johan den Dunnen
+/. 1i c.215+1G>A r.spl p.? Maternal (inferred) - pathogenic g.154493358C>T g.155264073C>T - - RAB39B_000003 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0001 - rs587776734 Germline yes - - - - DNA SEQ - - MRX;IDX 20159109-FamMRX72PatIV5 PubMed: Giannandrea 2010, Journal: Giannandrea 2010 nephew of PatII4, brother of PatIII1, twin of PatIII3 M no Italy - - - - - 1 Johan den Dunnen
+/. - c.215+1G>A r.(?) p.? Both (homozygous) ACMG pathogenic g.154493358C>T g.155264073C>T - - RAB39B_000003 ACMG grading: PS3,PP1,PVS1; hemizygous; reported in Giannandrea 2010. Am J Hum Genet 86: 185 - - - Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
?/. - c.254G>A r.(?) p.(Gly85Asp) Both (homozygous) ACMG VUS g.154490476C>T g.155261191C>T - - RAB39B_000006 ACMG grading: PM2,PP3 - - - Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
?/. - c.328C>A r.(?) p.(His110Asn) Unknown - VUS g.154490402G>T g.155261117G>T - - RAB39B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.366dup r.(?) p.(His123Serfs*4) Maternal (confirmed) - pathogenic g.154490364dup g.155261079dup RAB39B insA H123Sfs*4 - RAB39B_000005 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamN188 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - 2 Johan den Dunnen
+?/. - c.428C>G r.(?) p.(Ala143Gly) Unknown - likely pathogenic g.154490302G>C g.155261017G>C - - RAB39B_000012 - PubMed: Mata 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - PARK Fam PubMed: Mata 2016 family from PaGeR cohorts, affected female (affected father not analysed F - United States - - - - - 1 Johan den Dunnen
+?/. 2 c.429_431del r.(?) p.(Ala144del) Unknown ACMG likely pathogenic (!) g.154490304_154490306del g.155261019_155261021del - - RAB39B_000020 - - - - De novo - - - - - DNA SEQ-NG-I peripheral blood CES ADHD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. 2 c.429_431del r.(?) p.(Ala144del) Maternal (inferred) ACMG likely pathogenic g.154490304_154490306del g.155261019_155261021del - - RAB39B_000020 - - ClinVar-3381756 - De novo - - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. 2 c.436_447del r.(?) p.(Gly146_Tyr149del) Maternal (confirmed) - pathogenic (recessive) g.154490283_154490294del g.155260998_155261009del - - RAB39B_000016 - PubMed: Santoro 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ?, MRX72, NF FamPatIII1 PubMed: Santoro 2020 3-generation family, 2 affected (ID), 3 unaffected carrier females M no Italy - - - - - 2 Giulio Piluso
+/. - c.436_447del r.(?) p.(Gly146_Tyr149del) Maternal (confirmed) - pathogenic (recessive) g.154490283_154490294del g.155260998_155261009del - - RAB39B_000016 - PubMed: Santoro 2020 - - Germline yes - - - - DNA SEQ - - ID FamPatII4 PubMed: Santoro 2020 uncle M - Italy - - - - - 1 Johan den Dunnen
+/. - c.503C>A r.(?) p.(Thr168Lys) Maternal (confirmed) - pathogenic (recessive) g.154490227G>T g.155260942G>T - - RAB39B_000014 - PubMed: Wilsoni 2014 - - Germline yes - - - - DNA SEQ - - PARK FamWis PubMed: Wilsoni 2014 3-generation family, 7 affected (7M), 2 unaffected heterozygous carrier mothers M - United States - - - - - 7 Johan den Dunnen
+/. - c.503C>A r.(?) p.(Thr168Lys) Maternal (confirmed) - pathogenic (recessive) g.154490227G>T g.155260942G>T - - RAB39B_000014 - PubMed: Gao 2020 - - Germline yes - - - - DNA SEQ - - ? FamPatIV12 PubMed: Gao 2020 3-generation family, 7 affected males, 2 unaffected carrier females M no Australia - - - - - 1 Yujing Gao
+/. - c.535dup r.(?) p.(Glu179GlyfsTer49) Unknown - pathogenic g.154490200dup - RAB39B(NM_171998.4):c.535dupG (p.E179Gfs*49) - RAB39B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.543A>G r.(?) p.(Thr181=) Parent #1 - likely benign g.154490187T>C g.155260902T>C - - RAB39B_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377225-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. 2 c.543A>G r.(=) p.(Thr181=) Unknown - likely benign g.154490187T>C g.155260902T>C 822A>G (T181T) - RAB39B_000001 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010 - - Germline - 2/526 cases - - - DNA SEQ - - ? 20159109-Pats PubMed: Giannandrea 2010, Journal: Giannandrea 2010 526 unmapped X-linked patients seizures and autism spectrum disorder. - - Italy - - - - - 2 Johan den Dunnen
-?/. - c.543A>G r.(?) p.(Thr181=) Unknown - likely benign g.154490187T>C g.155260902T>C RAB39B(NM_171998.4):c.543A>G (p.T181=) - RAB39B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543A>G r.(?) p.(Thr181=) Unknown - likely benign g.154490187T>C - RAB39B(NM_171998.4):c.543A>G (p.T181=) - RAB39B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.557G>A r.(?) p.(Trp186*) Unknown - pathogenic g.154490173C>T - - - RAB39B_000019 - PubMed: Vissers 2010 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID MRtrio2 PubMed: Vissers 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M - (Netherlands) - - - - - 1 Johan den Dunnen
+/. - c.574G>A r.(?) p.(Gly192Arg) Maternal (confirmed) - pathogenic (recessive) g.154490156C>T g.155260871C>T - - RAB39B_000011 - PubMed: Mata 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES PARK Family PubMed: Mata 2016 4-generation family, 7 affected (2F, 5M), unaffected heterozygous carrier parents; 5 affected males, 1 unaffected carrier male (41y) M no United States Europe - - - - 7 Johan den Dunnen
+/. - c.574G>A r.(?) p.(Gly192Arg) Parent #1 - pathogenic (!) g.154490156C>T g.155260871C>T - - RAB39B_000011 incomplete penetrance (2/5 heterozygous femle carriers affected) PubMed: Mata 2016 - - Germline - - - - - DNA SEQ - - PARK Family PubMed: Mata 2016 2 affected/3 unaffected heterozygous carrier females F no United States Europe - - - - 2 Johan den Dunnen
+/. - c.574G>A r.(?) p.(Gly192Arg) Parent #1 - pathogenic g.154490156C>T g.155260871C>T - - RAB39B_000011 10 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs864309527 Germline - 10/2674 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
+/. - c.574G>A r.(?) p.(Gly192Arg) Unknown - pathogenic g.154490156C>T g.155260871C>T - - RAB39B_000011 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs864309527 Germline - 1/2674 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.627_629del r.(?) p.(Arg210del) Unknown - likely pathogenic g.154490104_154490106del g.155260819_155260821del 624_626delGAG - RAB39B_000013 - PubMed: Mata 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - PARK Fam PubMed: Mata 2016 family from PaGeR cohorts, affected female (affected father not analysed F - United States - - - - - 1 Johan den Dunnen
?/. - c.*339T>C r.(?) p.(=) Maternal (inferred) - VUS g.154489749A>G - - - RAB39B_000017 - PubMed: Gao 2020 - rs781919581 Germline/De novo (untested) - - - - - DNA SEQ - - PARK - PubMed: Gao 2020 - M - Australia - - - - - 1 Yujing Gao
?/. - c.*891A>C r.(?) p.(=) Maternal (inferred) - VUS g.154489197T>G - - - RAB39B_000018 - PubMed: Gao 2020 - rs143765586 Germline/De novo (untested) - - - - - DNA SEQ - - PARK - PubMed: Gao 2020 - M - Australia - - - - - 1 Yujing Gao
-/. - c.*1347C>T r.(=) p.(=) Parent #1 - benign g.154488741G>A g.155259456G>A - - RAB39B_000015 79 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17052027 Germline - 79/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 79 Mohammed Faruq
-/. - c.*1347C>T r.(=) p.(=) Unknown - benign g.154488741G>A g.155259456G>A - - RAB39B_000015 88 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17052027 Germline - 88/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 88 Mohammed Faruq
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