All variants in the DMBT1 gene

Information The variants shown are described using the NM_004406.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     
./. - c.-1169476_*10978021dup - - - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
?/. - c.860C>A r.(?) p.(Ala287Asp) - VUS g.124339274C>A g.122579758C>A DMBT1(NM_007329.2):c.860C>A (p.A287D) - DMBT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1420+1929C>G r.(=) p.(=) - likely benign g.124345796C>G g.122586280C>G DMBT1(NM_007329.2):c.1680C>G (p.(Asp560Glu)) - DMBT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1420+4668G>A r.(=) p.(=) - likely benign g.124348535G>A - DMBT1(NM_007329.2):c.1859G>A (p.R620Q) - DMBT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1420+4856A>C r.(=) p.(=) - likely benign g.124348723A>C g.122589207A>C DMBT1(NM_007329.2):c.2047A>C (p.N683H) - DMBT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1421-5704A>C r.(=) p.(=) - likely benign g.124351786A>C g.122592270A>C DMBT1(NM_007329.2):c.2177-2A>C (p.?) - DMBT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1421-5652del r.(?) p.(=) - VUS g.124351838del g.122592322del 2227delC - DMBT1_000007 - PubMed: Lhota 2016 - - Germline - - - 0 - Zdenek Kleibl
?/. - c.1421-5646C>T r.(=) p.(=) - VUS g.124351844C>T - DMBT1(NM_007329.2):c.2233C>T (p.R745*) - DMBT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1783+8T>C r.(=) p.(=) - likely benign g.124358621T>C g.122599105T>C DMBT1(NM_004406.2):c.1783+8T>C (p.(=)) - DMBT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.2749G>A r.(?) p.(Val917Met) - likely pathogenic g.124377661G>A g.122618145G>A NM_007329.2(DMBT1):c.4633G>A p.(Val1545Met) - DMBT1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
-?/. - c.2749G>A r.(?) p.(Val917Met) - likely benign g.124377661G>A g.122618145G>A DMBT1(NM_004406.2):c.2749G>A (p.(Val917Met)) - DMBT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2815G>A r.(?) p.(Gly939Ser) - VUS g.124377727G>A g.122618211G>A DMBT1(NM_007329.2):c.4699G>A (p.G1567S) - DMBT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2854G>A r.(?) p.(Gly952Arg) - likely benign g.124377766G>A g.122618250G>A DMBT1(NM_007329.2):c.4738G>A (p.G1580R) - DMBT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4619C>T r.(?) p.(Pro1540Leu) - VUS g.124396776C>T g.122637260C>T 6473C>T - DMBT1_000018 - PubMed: Duvvari 2016 - - Germline - - - 0 - LOVD
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