Full data view for gene RAB1A

Information The variants shown are described using the NM_004161.4 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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_6_ c.-386_*1639{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_63903236)_(66130003_?)del g.(?_63676102)_(65902869_?)del hg18 chr2:63,756,740–65,983,507x1 - RAB1A_000000 2.23-Mb heterozygous deletion (rs171902 to rs11674730) incl. UGP2, VPS54, PELI1, HSPC159, AFTPH, SERTAD2, SLC1A4, CEP68, RAB1A, ACTR2, SPRED2 PubMed: Rios 2023 - - De novo - - - - - DNA arrayCGH - - ? Pat1;Pat6 PubMed: Wohlleber 2011, PubMed: Rios 2023 - M - - - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-386_*1639{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_62687128)_(65523986_?)del g.(?_62459993)_(65296852_?)del hg18 chr2:62,540,632–65,377,490x1 - RAB1A_000000 2.84-Mb deletion incl. TMEM17, EHBP1, OTX1, LOC51057, MDH1, UGP2, VPS54, PELI1, HSPC159, AFTPH, SERTAD2, SLC1A4, CEP68, RAB1A, ACTR2 PubMed: Wohlleber 2011, PubMed: Rios 2023 - - De novo - - - - - DNA arrayCGH - - ? Pat2;Pat7 PubMed: Wohlleber 2011, PubMed: Rios 2023 - F - - - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-386_*1639{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_62960000)_(6801000_?)del g.(?_62730000)_(67780000_?)del hg18 deletion 62.82–67.87 Mb - RAB1A_000000 - PubMed: Wohlleber 2011, PubMed: Rios 2023 - - De novo - - - - - DNA arrayCGH - - ? Pat2;Pat8 PubMed: Jorgez 2014, PubMed: Rios 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-386_*1639{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_60060000)_(66370000_?)del g.(?_59830000)_(66140000_?)del hg18 deletion 59.92-66.23 Mb - RAB1A_000000 - PubMed: Jorgez 2014, PubMed: Rios 2023 - - De novo - - - - - DNA arrayCGH - - ? Pat4;Pat9 PubMed: Jorgez 2014, PubMed: Rios 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-386_*1639{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_61050000)_(65650000_?)del g.(?_60820000)_(65420000_?)del hg18 deletion 60.91–65.51 Mb - RAB1A_000000 - PubMed: Jorgez 2014, PubMed: Rios 2023 - - De novo - - - - - DNA arrayCGH - - ? Pat5;Pat10 PubMed: Jorgez 2014, PubMed: Rios 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-386_*1639{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_62880000)_65900000_?)del g.(?_62650000)_(65670000_?)del hg18 deletion 62.74–65.76 Mb - RAB1A_000000 - PubMed: Jorgez 2014, PubMed: Rios 2023 - - De novo - - - - - DNA arrayCGH - - ? Pat7;Pat11 PubMed: Jorgez 2014, PubMed: Rios 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-386_*1639{0} r.0 p.0 Unknown - pathogenic (dominant) g.(62113174_62159728)_(65877962_65890333)del g.(61886039_61932593)_(65650828_65663199)del hg18 deletion (61,966,678-62,013,233)–(65,731,466-65,743,837) - RAB1A_000000 deletion from rs6714793_rs6722228 to between rs7579084_rs840776 PubMed: Hancarova 2013, PubMed: Rios 2023 - - De novo - - - - - DNA arrayCGH - - ? patient;Pat12 PubMed: Hancarova 2013, PubMed: Rios 2023 - M - Czech Republic - - - - - 1 Johan den Dunnen
-?/. - c.2T>G r.(2u>g) p.(Ser2_Met4del) Unknown - likely benign g.65357048A>C g.65129914A>C variant identified in multiple individuals - RAB1A_000001 - PubMed: Rios 2023 - rs755814508 Germline - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control Pat13 PubMed: Rios 2023 controls and cases - - United States - - - - - 1 Johan den Dunnen
+/. - c.60_61del r.(?) p.(Val22TrpfsTer8) Unknown - pathogenic (dominant) g.65331903_65331904del g.65104769_65104770del - - RAB1A_000006 - PubMed: Rios 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? Fam3PatII1 PubMed: Rios 2023 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.83T>C r.(?) p.(Leu28Pro) Unknown - pathogenic (dominant) g.65331881A>G g.65104747A>G - - RAB1A_000005 somatic mosaicism in patient (0.23 variant reads) PubMed: Rios 2023 - - Somatic - - - - - DNA SEQ, SEQ-NG - WES ? Fam4PatII2 PubMed: Rios 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.90G>T r.(?) p.(Arg30Ser) Unknown - VUS g.65331874C>A g.65104740C>A RAB1A(NM_004161.5):c.90G>T (p.R30S) - RAB1A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.127dup r.(?) p.(Thr43AsnfsTer50) Paternal (confirmed) - pathogenic (dominant) g.65325170dup g.65098036dup - - RAB1A_000004 - PubMed: Rios 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2PatII1 PubMed: Rios 2023 2-generation family, affected father/daugther F - United States - - - - - 2 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Arg175Ter) Paternal (confirmed) ACMG pathogenic (dominant) g.65315722G>A g.65088588G>A - - RAB1A_000003 - PubMed: Rios 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1PatII1 PubMed: Rios 2023 2-generation family, affected twins (brither/sister/father) M - United States - - - - - 2 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Arg175Ter) Paternal (confirmed) - pathogenic (dominant) g.65315722G>A g.65088588G>A - - RAB1A_000003 - PubMed: Rios 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1PatII2 PubMed: Rios 2023 sister F - United States - - - - - 1 Johan den Dunnen
-?/. - c.*15819C>T r.(=) p.(=) Unknown - likely benign g.65299808G>A - CEP68(NM_001319100.1):c.1578G>A (p.G526=) - CEP68_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18752G>A r.(=) p.(=) Unknown - likely benign g.65296875C>T g.65069741C>T CEP68(NM_015147.3):c.297C>T (p.L99=) - CEP68_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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