Full data view for gene DEPDC5

Information The variants shown are described using the NM_001242896.1 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     
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_151:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_352:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_37:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_441:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_491:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_507:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_556:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_56:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_595:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_130:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_500:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs181347577 Germline - 11/567 controls - - - DNA SEQ-NG - - Healthy/Control S_557:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T DEPDC5(NM_001242896.1):c.2020C>T (p.(Arg674Cys)), DEPDC5(NM_001242896.3):c.2020C>T (p.R674C) - DEPDC5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T DEPDC5(NM_001242896.1):c.2020C>T (p.(Arg674Cys)), DEPDC5(NM_001242896.3):c.2020C>T (p.R674C) - DEPDC5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Unknown - likely benign g.32218692C>T g.31822706C>T DEPDC5(NM_001242896.1):c.2020C>T (p.(Arg674Cys)), DEPDC5(NM_001242896.3):c.2020C>T (p.R674C) - DEPDC5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2020C>T r.(?) p.(Arg674Cys) Parent #1 - likely benign g.32218692C>T g.31822706C>T - - DEPDC5_000010 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs181347577 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
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