Unique variants in the VPS13B gene

Information The variants shown are described using the NM_017890.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

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 22-23 c.2824+51811_3082+4080del r.2825_3082del p.Gly942_Thr1027del - pathogenic g.100339294_100408013del g.99327066_99395785del EX20_21del: p.Gly942_Thr1027del; Del exons 20-21: 100408469 - 100477188 bp (hg18) - VPS13B_000038 2 Finnish COH1 patients (com-het) PubMed: Kolehmainen et al. 2004, PubMed: Balikova et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 25 c.3348_3349delCT r.(3348_3349delcu) p.(Cys1117Phefs*8) - pathogenic g.100454766_100454767del g.99442538_99442539del c.3348_3349delCT: C1117F…I1124X (exon 23) - VPS13B_000043 Finnish Major COH1 mutation: 26 Finnish COH1 patients (15 hom and 11 com-het) PubMed: Kolehmainen et al. 2003, PubMed: Kolehmainen et al. 2004 - rs180177327 SUMMARY record yes - - - - Anne Polvi
?/? 1 33 c.4157-?_4158+?del r.4157_4158del p.(Ala1570Glyfs*4) - VUS g.(?_100515178)_(100519998_?)del - c.EX30del: A1570G…A1573X - VPS13B_000050 1 more item PubMed: Kolehmainen et al. 2003 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 32 c.4572dupA r.(4572dupa) p.(Glu1525Argfs*45) - pathogenic g.100523604dup g.99511376dup c.4572_4573insA_E1525R...E1569X (exon 29) - VPS13B_000057 1 Finnish COH1 patient (com-het) PubMed: Kolehmainen et al. 2003 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 37 c.5737dupA r.5737dupa p.Ile1913Asnfs*7 - pathogenic g.100654480dup g.99642252dup c.5730_5731insA: p.Ile1913fsX6 - VPS13B_000071 1 Finnish COH1 patient (com-het) PubMed: Kolehmainen et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 37 c.5827C>T r.5827c>u p.Arg1943* - pathogenic g.100654570C>T g.99642342C>T c.5827C>T: p.Arg1943X - VPS13B_000074 2 Finnish COH1 patients (1 hom, 1 com-het) PubMed: Kolehmainen et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 40 c.6578T>G r.(6578u>g) p.(Leu2193Arg) - likely pathogenic g.100729447T>G g.99717219T>G c.6578T>G: L2193R (exon 37) - VPS13B_000079 1 Finnish COH1 patient (com-het) PubMed: Kolehmainen et al. 2003 - rs120074149 SUMMARY record yes - - - - Anne Polvi
+/+ 1 59 c.10841_10844delTCTC r.10841_10844delucuc p.Leu3614Profs*36 - pathogenic g.100866383_100866386del g.99854155_99854158del c.10838_10841delCTCT: p.Leu3614fsX36 - VPS13B_000119 2 Finnish COH1 patients (com-het) PubMed: Kolehmainen et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
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