Full data view for gene DNMBP

Information The variants shown are described using the NM_015221.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.811C>T r.(?) p.(Arg271*) Both (homozygous) - pathogenic (recessive) g.101716420G>A g.99956663G>A - - DNMBP_000002 - PubMed: Ansar 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT 30290152-FamF385 PubMed: Ansar 2018 5-generation family, 9 affected (5F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 9 Johan den Dunnen
-?/. - c.822G>A r.(?) p.(Ala274=) Unknown - likely benign g.101716409C>T - DNMBP(NM_015221.4):c.822G>A (p.A274=) - DNMBP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1155G>A r.(?) p.(Pro385=) Unknown - likely benign g.101716076C>T - DNMBP(NM_015221.4):c.1155G>A (p.P385=) - DNMBP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1268A>G r.(?) p.(Asn423Ser) Unknown - likely benign g.101715963T>C g.99956206T>C DNMBP(NM_015221.4):c.1268A>G (p.N423S) - DNMBP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1723C>T r.(?) p.(Arg575Cys) Unknown - VUS g.101715508G>A - DNMBP(NM_015221.4):c.1723C>T (p.R575C) - DNMBP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1758G>A r.(?) p.(Lys586=) Unknown - likely benign g.101715473C>T - DNMBP(NM_015221.4):c.1758G>A (p.K586=) - DNMBP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1778C>T r.(?) p.(Ser593Leu) Unknown - VUS g.101715453G>A - DNMBP(NM_015221.4):c.1778C>T (p.S593L) - DNMBP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2107C>T r.(?) p.(Arg703Trp) Unknown - VUS g.101715124G>A - DNMBP(NM_015221.4):c.2107C>T (p.R703W) - DNMBP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2261-21401C>G r.(=) p.(=) Unknown - VUS g.101690304G>C - DNMBP(NM_001318326.1):c.217C>G (p.Q73E) - DNMBP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2261-21093G>A r.(=) p.(=) Unknown - likely benign g.101689996C>T - DNMBP(NM_001318326.1):c.525G>A (p.Q175=) - DNMBP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2261-20833A>T r.(=) p.(=) Unknown - VUS g.101689736T>A - DNMBP(NM_001318326.1):c.785A>T (p.D262V) - DNMBP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2261-20809C>T r.(=) p.(=) Unknown - VUS g.101689712G>A - DNMBP(NM_001318326.1):c.809C>T (p.A270V) - DNMBP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2261-20658G>T r.(=) p.(=) Unknown - likely benign g.101689561C>A g.99929804C>A DNMBP(NM_001318326.1):c.960G>T (p.Q320H) - DNMBP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2554+8C>T r.(=) p.(=) Unknown - likely benign g.101667744G>A g.99907987G>A DNMBP(NM_015221.4):c.2554+8C>T - DNMBP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2852_2855del r.(?) p.(Thr951Metfs*41) Both (homozygous) - pathogenic (recessive) g.101657910_101657913del g.99898153_99898156del 2852_2855delCCAA - DNMBP_000003 - PubMed: Ansar 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 30290152-FamF3 PubMed: Ansar 2018 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 2 Johan den Dunnen
-?/. - c.2868G>A r.(?) p.(Ala956=) Unknown - likely benign g.101657895C>T - DNMBP(NM_015221.4):c.2868G>A (p.A956=) - DNMBP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2947_2948del r.(?) p.(Asp983*) Both (homozygous) - pathogenic (recessive) g.101656128_101656129del g.99896371_99896372del - - DNMBP_000001 - PubMed: Ansar 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CTRCT 30290152-FamF372 PubMed: Ansar 2018 4-generation family, 2 affected, sisters unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 2 Johan den Dunnen
-?/. - c.3209T>C r.(?) p.(Met1070Thr) Unknown - likely benign g.101648658A>G - DNMBP(NM_015221.4):c.3209T>C (p.M1070T) - DNMBP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3410G>A r.(?) p.(Arg1137Gln) Unknown - VUS g.101646265C>T - DNMBP(NM_015221.4):c.3410G>A (p.R1137Q) - DNMBP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3725T>G r.(?) p.(Leu1242Arg) Unknown - VUS g.101645517A>C - DNMBP(NM_015221.4):c.3725T>G (p.L1242R) - DNMBP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3914C>T r.(?) p.(Ser1305Leu) Unknown - VUS g.101643851G>A g.99884094G>A DNMBP(NM_015221.4):c.3914C>T (p.S1305L) - DNMBP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4101C>T r.(?) p.(His1367=) Unknown - likely benign g.101640015G>A - DNMBP(NM_015221.4):c.4101C>T (p.H1367=) - DNMBP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4139G>A r.(?) p.(Gly1380Asp) Unknown - VUS g.101639977C>T - DNMBP(NM_015221.4):c.4139G>A (p.G1380D) - DNMBP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4354G>C r.(?) p.(Val1452Leu) Unknown - likely benign g.101639762C>G - DNMBP(NM_015221.4):c.4354G>C (p.V1452L) - DNMBP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4385C>T r.(?) p.(Thr1462Met) Unknown - VUS g.101639731G>A g.99879974G>A DNMBP(NM_015221.4):c.4385C>T (p.T1462M) - DNMBP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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