Full data view for gene DPYSL5

Information The variants shown are described using the NM_020134.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
Legend   How to query  

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.121G>A r.(?) p.(Glu41Lys) Unknown - VUS g.27121488G>A g.26898620G>A DPYSL5(NM_020134.4):c.121G>A (p.E41K) - DPYSL5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121G>A r.(?) p.(Glu41Lys) Unknown - VUS g.27121488G>A - DPYSL5(NM_020134.4):c.121G>A (p.E41K) - DPYSL5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.121G>A r.(?) p.(Glu41Lys) Unknown - pathogenic (dominant) g.27121488G>A g.26898620G>A - - DPYSL5_000001 - PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} - - De novo - - - - - DNA SEQ-NG - WES NDD Pat1 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.121G>A r.(?) p.(Glu41Lys) Unknown - pathogenic (dominant) g.27121488G>A g.26898620G>A - - DPYSL5_000001 - PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} - - De novo - - - - - DNA SEQ-NG - WES NDD Pat2 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.121G>A r.(?) p.(Glu41Lys) Unknown - pathogenic (dominant) g.27121488G>A g.26898620G>A - - DPYSL5_000001 - PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} - - De novo - - - - - DNA SEQ-NG - WES NDD Pat3 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.121G>A r.(?) p.(Glu41Lys) Unknown - pathogenic (dominant) g.27121488G>A g.26898620G>A - - DPYSL5_000001 - PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} - - De novo - - - - - DNA SEQ-NG - WES NDD Pat4 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.121G>A r.(?) p.(Glu41Lys) Unknown - pathogenic (dominant) g.27121488G>A g.26898620G>A - - DPYSL5_000001 - PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} - - De novo - - - - - DNA SEQ-NG - WES NDD Pat5 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.121G>A r.(?) p.(Glu41Lys) Unknown - pathogenic (dominant) g.27121488G>A g.26898620G>A - - DPYSL5_000001 - PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} - - De novo - - - - - DNA SEQ-NG - WES NDD Pat6 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.121G>A r.(?) p.(Glu41Lys) Unknown - pathogenic (dominant) g.27121488G>A g.26898620G>A - - DPYSL5_000001 - PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} - - De novo - - - - - DNA SEQ-NG - WES NDD Pat7 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.121G>A r.(?) p.(Glu41Lys) Unknown - pathogenic (dominant) g.27121488G>A g.26898620G>A - - DPYSL5_000001 - PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} - - De novo - - - - - DNA SEQ-NG - WES NDD Pat8 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.