All variants in the RAB39B gene

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     

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     

Owner     
+/. _1_2_ c.-279_*2562[0] r.0 p.0 - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - - - Johan den Dunnen
+/. _1_2_ c.-279_*2562[0] r.0 p.0 - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - - - Johan den Dunnen
./. - c.-228856_*924247dup - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. - c.-229G>A r.(?) p.(=) - VUS g.154493802C>T g.155264517C>T - - RAB39B_000009 - PubMed: Gao 2020 - - Unknown - - - - - Yujing Gao
+/. _1_2_ c.-279_*2562[0] r.0 p.0 - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - - - Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010 - rs267606995 Germline yes - - - - Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0002 - rs267606995 Germline yes - - - - Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0002 - rs267606995 Germline yes - - - - Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0002 - rs267606995 Germline yes - - - - Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0002 - rs267606995 Germline yes - - - - Johan den Dunnen
+/. 1 c.21C>A r.(?) p.(Tyr7*) - pathogenic g.154493553G>T g.155264268G>T - - RAB39B_000002 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0002 - rs267606995 Germline yes - - - - Johan den Dunnen
?/. - c.188G>C r.(?) p.(Trp63Ser) - VUS g.154493386C>G g.155264101C>G - - RAB39B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 c.215G>T r.[106_215del,=] p.[Val36IlefsTer18,Arg72Ile] - likely pathogenic g.154493359C>A g.155264074C>A - - RAB39B_000021 effect on RNA exclusion of exon - - - Germline/De novo (untested) - - - - - Tjakko van Ham
?/. - c.215G>T r.(?) p.(Arg72Ile) - VUS g.154493359C>A - RAB39B(NM_171998.3):c.215G>T (p.R72I) - RAB39B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1i c.215+1G>A r.-234_215del p.? - pathogenic g.154493358C>T g.155264073C>T - - RAB39B_000003 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0001 - rs587776734 Germline yes - - - - Johan den Dunnen
+/. 1i c.215+1G>A r.spl p.? - pathogenic g.154493358C>T g.155264073C>T - - RAB39B_000003 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0001 - rs587776734 Germline yes - - - - Johan den Dunnen
+/. 1i c.215+1G>A r.spl p.? - pathogenic g.154493358C>T g.155264073C>T - - RAB39B_000003 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0001 - rs587776734 Germline yes - - - - Johan den Dunnen
+/. 1i c.215+1G>A r.spl p.? - pathogenic g.154493358C>T g.155264073C>T - - RAB39B_000003 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010, OMIM:var0001 - rs587776734 Germline yes - - - - Johan den Dunnen
+/. - c.215+1G>A r.(?) p.? 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 - - - - - Andreas Laner
?/. - c.254G>A r.(?) p.(Gly85Asp) ACMG VUS g.154490476C>T g.155261191C>T - - RAB39B_000006 ACMG grading: PM2,PP3 - - - Germline - - - - - Andreas Laner
?/. - c.328C>A r.(?) p.(His110Asn) - VUS g.154490402G>T g.155261117G>T - - RAB39B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. - c.366dup r.(?) p.(His123Serfs*4) - pathogenic g.154490364dup g.155261079dup RAB39B insA H123Sfs*4 - RAB39B_000005 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+?/. - c.428C>G r.(?) p.(Ala143Gly) - likely pathogenic g.154490302G>C g.155261017G>C - - RAB39B_000012 - PubMed: Mata 2016 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 2 c.429_431del r.(?) p.(Ala144del) ACMG likely pathogenic (!) g.154490304_154490306del g.155261019_155261021del - - RAB39B_000020 - - - - De novo - - - - - Marketa Wayhelova
+?/. 2 c.429_431del r.(?) p.(Ala144del) ACMG likely pathogenic g.154490304_154490306del g.155261019_155261021del - - RAB39B_000020 - - ClinVar-3381756 - De novo - - - - - Marketa Wayhelova
+/. 2 c.436_447del r.(?) p.(Gly146_Tyr149del) - pathogenic (recessive) g.154490283_154490294del g.155260998_155261009del - - RAB39B_000016 - PubMed: Santoro 2020 - - Germline yes - - - - Giulio Piluso
+/. - c.436_447del r.(?) p.(Gly146_Tyr149del) - pathogenic (recessive) g.154490283_154490294del g.155260998_155261009del - - RAB39B_000016 - PubMed: Santoro 2020 - - Germline yes - - - - Johan den Dunnen
+/. - c.503C>A r.(?) p.(Thr168Lys) - pathogenic (recessive) g.154490227G>T g.155260942G>T - - RAB39B_000014 - PubMed: Wilsoni 2014 - - Germline yes - - - - Johan den Dunnen
+/. - c.503C>A r.(?) p.(Thr168Lys) - pathogenic (recessive) g.154490227G>T g.155260942G>T - - RAB39B_000014 - PubMed: Gao 2020 - - Germline yes - - - - Yujing Gao
+/. - c.535dup r.(?) p.(Glu179GlyfsTer49) - pathogenic g.154490200dup - RAB39B(NM_171998.4):c.535dupG (p.E179Gfs*49) - RAB39B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 c.543A>G r.(?) p.(Thr181=) - likely benign g.154490187T>C g.155260902T>C - - RAB39B_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 2 c.543A>G r.(=) p.(Thr181=) - likely benign g.154490187T>C g.155260902T>C 822A>G (T181T) - RAB39B_000001 - PubMed: Giannandrea 2010, Journal: Giannandrea 2010 - - Germline - 2/526 cases - - - Johan den Dunnen
-?/. - c.543A>G r.(?) p.(Thr181=) - 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 - - - - - VKGL-NL_Groningen
-?/. - c.543A>G r.(?) p.(Thr181=) - likely benign g.154490187T>C - RAB39B(NM_171998.4):c.543A>G (p.T181=) - RAB39B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.557G>A r.(?) p.(Trp186*) - pathogenic g.154490173C>T - - - RAB39B_000019 - PubMed: Vissers 2010 - - De novo - - - - - Johan den Dunnen
+/. - c.574G>A r.(?) p.(Gly192Arg) - pathogenic (recessive) g.154490156C>T g.155260871C>T - - RAB39B_000011 - PubMed: Mata 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.574G>A r.(?) p.(Gly192Arg) - pathogenic (!) g.154490156C>T g.155260871C>T - - RAB39B_000011 incomplete penetrance (2/5 heterozygous femle carriers affected) PubMed: Mata 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.574G>A r.(?) p.(Gly192Arg) - pathogenic g.154490156C>T g.155260871C>T - - RAB39B_000011 10 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs864309527 Germline - 10/2674 individuals - - - Mohammed Faruq
+/. - c.574G>A r.(?) p.(Gly192Arg) - pathogenic g.154490156C>T g.155260871C>T - - RAB39B_000011 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs864309527 Germline - 1/2674 individuals - - - Mohammed Faruq
+?/. - c.627_629del r.(?) p.(Arg210del) - likely pathogenic g.154490104_154490106del g.155260819_155260821del 624_626delGAG - RAB39B_000013 - PubMed: Mata 2016 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.*339T>C r.(?) p.(=) - VUS g.154489749A>G - - - RAB39B_000017 - PubMed: Gao 2020 - rs781919581 Germline/De novo (untested) - - - - - Yujing Gao
?/. - c.*891A>C r.(?) p.(=) - VUS g.154489197T>G - - - RAB39B_000018 - PubMed: Gao 2020 - rs143765586 Germline/De novo (untested) - - - - - Yujing Gao
-/. - c.*1347C>T r.(=) p.(=) - benign g.154488741G>A g.155259456G>A - - RAB39B_000015 79 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17052027 Germline - 79/2794 individuals - - - Mohammed Faruq
-/. - c.*1347C>T r.(=) p.(=) - benign g.154488741G>A g.155259456G>A - - RAB39B_000015 88 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17052027 Germline - 88/2794 individuals - - - Mohammed Faruq
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