Full data view for gene RAB28

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001017979.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-19G>A r.(?) p.(=) Unknown - benign g.13485793C>T g.13484169C>T RAB28(NM_004249.4):c.-19G>A - RAB28_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22A>T r.(?) p.(Ser8Cys) Unknown - likely benign g.13485753T>A g.13484129T>A RAB28(NM_004249.4):c.22A>T (p.S8C) - RAB28_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.51G>T r.(?) p.(Val17=) Unknown - benign g.13485724C>A g.13484100C>A RAB28(NM_004249.4):c.51G>T (p.V17=) - RAB28_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.55G>A r.(?) p.(Gly19Arg) Both (homozygous) - pathogenic (recessive) g.13485720C>T g.13484096C>T - - RAB28_000017 - PubMed: Jespersgaard 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 125 gene panel retinal disease family PubMed: Jespersgaard 2020 4-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - Denmark - - - - - 2 Johan den Dunnen
?/. - c.55G>A r.(?) p.(Gly19Arg) Both (homozygous) ACMG VUS g.13485720C>T g.13484096C>T RAB28 c.55G>A, p.(Gly19Arg), c.55G>A, p.(Gly19Arg) - RAB28_000017 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 452 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. 1 c.68C>T r.(?) p.(Ser23Phe) Both (homozygous) - pathogenic (recessive) g.13485707G>A g.13484083G>A - - RAB28_000016 - PubMed: Lee 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - 98-gene panel retinal disease patient PubMed: Lee 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea - - - - - 1 Johan den Dunnen
+?/. - c.68C>T r.(?) p.(Ser23Phe) Both (homozygous) ACMG VUS g.13485707G>A - - - RAB28_000016 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_GH_0094 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.68C>T r.(?) p.(Ser23Phe) Both (homozygous) ACMG VUS g.13485707G>A - - - RAB28_000016 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_GH_0104 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.100C>T r.(?) p.(Gln34*) Unknown - pathogenic g.13481126G>A - RAB28(NM_004249.3):c.100C>T (p.Q34*) - RAB28_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.172+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13481053C>G g.13479429C>G - - RAB28_000015 - PubMed: Riveiro-Alvarez 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease MD-0312 PubMed: Riveiro-Alvarez 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - 1 Johan den Dunnen
-?/. - c.172+6A>C r.(=) p.(=) Unknown - likely benign g.13481048T>G g.13479424T>G RAB28(NM_004249.3):c.172+6A>C - RAB28_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.190del r.(?) p.(Leu64PhefsTer6) Unknown - pathogenic g.13476015del g.13474391del RAB28(NM_004249.3):c.190delC (p.L64Ffs*6) - RAB28_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.203A>G r.(?) p.(Asp68Gly) Both (homozygous) ACMG likely pathogenic g.13476000T>C g.13474376T>C - - RAB28_000024 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 080604 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.208G>A r.(?) p.(Gly70Arg) Both (homozygous) ACMG VUS g.13475995C>T g.13474371C>T - - RAB28_000022 ACMG PP3, PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-838 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. 4 c.262G>A r.(?) p.(Gly88Arg) Both (homozygous) ACMG VUS g.13462452C>T g.13460828C>T - - RAB28_000023 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072206 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. 4 c.262G>A r.(?) p.(Gly88Arg) Both (homozygous) ACMG VUS g.13462452C>T g.13460828C>T - - RAB28_000023 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072241 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.377T>G r.(?) p.(Leu126Trp) Unknown - VUS g.13462337A>C g.13460713A>C RAB28(NM_004249.4):c.377T>G (p.L126W) - RAB28_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.377T>G r.(?) p.(Leu126Trp) Unknown - VUS g.13462337A>C g.13460713A>C RAB28(NM_004249.4):c.377T>G (p.L126W) - RAB28_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.409C>T r.(?) p.(Arg137*) Both (homozygous) - pathogenic g.13383201G>A g.13381577G>A - - RAB28_000008 - Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - F yes Israel Morocco;Jewish - - - - 2 Dror Sharon
+/. - c.409C>T r.(?) p.(Arg137*) Unknown ACMG pathogenic g.13383201G>A - - - RAB28_000008 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 5 c.409C>T r.(?) p.(Arg137*) Both (homozygous) - pathogenic (recessive) g.13383201G>A g.13381577G>A - - RAB28_000008 - PubMed: Roosing 2013 - - Germline - - - - - DNA SEQ - - retinal disease FamB PubMed: Roosing 2013 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - yes Morocco Jewish - - - - 2 Johan den Dunnen
+/. 6 c.565C>T r.(?) p.(Arg137*) Both (homozygous) - pathogenic (recessive) g.13378177G>A g.13376553G>A - - RAB28_000014 - PubMed: Roosing 2013 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease FamA PubMed: Roosing 2013 2-generation family, 3 affected 2(F, M), unaffected parents - - Germany - - - - - 3 Johan den Dunnen
+?/. - c.565C>T r.(?) p.(Gln189Ter) Both (homozygous) - likely pathogenic (recessive) g.13378177G>A g.13376553G>A 565G>A - RAB28_000014 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease CHRO249 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
?/. - c.574-1315C>T r.(=) p.(=) Unknown - VUS g.13371589G>A - RAB28(NM_004249.3):c.574C>T (p.R192C) - RAB28_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.574-1310T>C r.(=) p.(=) Unknown - benign g.13371584A>G g.13369960A>G RAB28(NM_004249.3):c.579T>C (p.I193=), RAB28(NM_004249.4):c.579T>C (p.I193=) - RAB28_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574-1310T>C r.(=) p.(=) Unknown - likely benign g.13371584A>G g.13369960A>G RAB28(NM_004249.3):c.579T>C (p.I193=), RAB28(NM_004249.4):c.579T>C (p.I193=) - RAB28_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574-1279G>T r.spl? p.(?) Unknown ACMG VUS g.13371553C>A g.13369929C>A NM_004249.2:c.610G>T (Glu204*) - RAB28_000021 ACMG PM2, PVS1_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-460 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-/. - c.574-1247T>C r.(=) p.(=) Unknown - benign g.13371521A>G g.13369897A>G RAB28(NM_004249.4):c.642T>C (p.S214=) - RAB28_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.574-1238T>G r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.13371512A>C - NM_004249.3:c.651T>G (Cys217Trp) - RAB28_000013 - PubMed: Riveiro-Alvarez 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease MD-0448 PubMed: Riveiro-Alvarez 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Spain - - - - - 1 Johan den Dunnen
-?/. - c.574-1223C>T r.(=) p.(=) Unknown - likely benign g.13371497G>A g.13369873G>A RAB28(NM_004249.4):c.*3C>T - RAB28_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.575G>A r.(?) p.(Arg192Lys) Unknown - VUS g.13370273C>T g.13368649C>T G575A - RAB28_000018 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#024 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.594T>G r.(?) p.(Ile198Met) Unknown - VUS g.13370254A>C g.13368630A>C RAB28(NM_001017979.2):c.594T>G (p.I198M) - RAB28_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.610G>A r.(?) p.(Glu204Lys) Unknown ACMG VUS g.13370238C>T g.13368614C>T RAB28:NM_004249 c.G610A, p.E204K - RAB28_000019 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-482 PubMed: Rodriguez-Munoz 2020 family fRPN-214, proband M - Spain - - - - - 1 LOVD
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