Full data view for gene DAB1

Information The variants shown are described using the NM_021080.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.-374-172586A>C r.(=) p.(=) Both (homozygous) - VUS g.58522420T>G g.58056748T>G - - DAB1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-374-172586A>C r.(=) p.(=) Both (homozygous) - VUS g.58522420T>G g.58056748T>G - - DAB1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-374-171887del r.(=) p.(=) Unknown - VUS g.58521721del g.58056049del - - DAB1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 3i c.-136-77008_-136-75811ins(1935) r.(=) p.(=) Paternal (inferred) - likely benign g.57832649_57833846ins(1935) - ATTTT[~400] - DAB1_000011 - PubMed: Seixas 2017 - - Germline no - - 0 - DNA PCR, SEQ, Southern - - SCA 28686858-FamM1 PubMed: Seixas 2017 4-generation family, 18 affecteds F;M - Portugal - - 0 - - 18 Johan den Dunnen
+/. 3i c.-136-75952_-136-75878delinsATTTT[66]ATTTC[60]ATTTT[81] r.? p.? Paternal (inferred) - pathogenic g.57832716_57832790delinsAAAAT[81]GAAAT[60]AAAAT[66] - ATTTT[66]ATTTC[60]ATTTT[81] - DAB1_000012 - PubMed: Seixas 2017 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - SCA 28686858-FamM1 PubMed: Seixas 2017 4-generation family, 18 affecteds F;M - Portugal - - 0 - - 18 Johan den Dunnen
?/. - c.-136-22735T>C r.(=) p.(=) Both (homozygous) - VUS g.57779573A>G g.57313901A>G - - DAB1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 3i c.-136-75952_-136-75878ATTTT[15] r.(?) p.(=) Parent #1 - likely benign g.57832716_57832790TAAAA[15] g.57367044_57367118TAAAA[15] - - DAB1_000007 - reference allele - - Germline - - - 0 - DNA PCR, SEQ - - Healthy/Control reference haplotype reference haplotype - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.67+1G>T r.spl? p.? Unknown - likely pathogenic g.57756635C>A g.57290963C>A DAB1(NM_021080.4):c.67+1G>T - DAB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.68-53588C>T r.(=) p.(=) Both (homozygous) - VUS g.57664690G>A g.57199017G>A - - DAB1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.307-2A>T r.spl? p.? Unknown - VUS g.57538089T>A g.57072416T>A DAB1(NM_021080.4):c.307-2A>T - DAB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.439-3C>T r.spl? p.? Unknown - likely benign g.57537317G>A g.57071644G>A DAB1(NM_021080.4):c.439-3C>T - DAB1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.492G>T r.(?) p.(Leu164Phe) Unknown - VUS g.57537261C>A g.57071588C>A DAB1(NM_021080.4):c.492G>T (p.L164F) - DAB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.723+6T>C r.(=) p.(=) Unknown - likely benign g.57528551A>G g.57062878A>G DAB1(NM_021080.4):c.723+6T>C - DAB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.860G>A r.(?) p.(Ser287Asn) Unknown - likely benign g.57489239C>T g.57023566C>T DAB1(NM_021080.3):c.860G>A (p.(Ser287Asn)) - DAB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.873C>T r.(?) p.(Phe291=) Unknown - likely benign g.57489226G>A - DAB1(NM_021080.4):c.873C>T (p.F291=) - DAB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1104C>T r.(?) p.(Pro368=) Unknown - likely benign g.57480896G>A g.57015223G>A DAB1(NM_021080.4):c.1104C>T (p.P368=) - DAB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1444+8C>A r.(=) p.(=) Unknown - likely benign g.57480548G>T - DAB1(NM_021080.4):c.1444+8C>A - DAB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*15+1G>A r.spl? p.? Unknown - VUS g.57476352C>T g.57010679C>T DAB1(NM_021080.3):c.*15+1G>A (p.(=)) - DAB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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