Full data view for gene SEPHS1

Information The variants shown are described using the NM_012247.4 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     
+/. 9 c.1054T>G r.(?) p.(Trp352Gly) Unknown - pathogenic (dominant) g.13361267A>C g.13319267A>C - - SEPHS1_000004 - PubMed: Mullegama 2024, Journal: Mullegama 2024 SCV002103296.1 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. 9 c.1111C>G r.(?) p.(Arg371Gly) Unknown - pathogenic (dominant) g.13361210G>C g.13319210G>C - - SEPHS1_000003 possible germline mosaicism parent PubMed: Mullegama 2024, Journal: Mullegama 2024 SCV002103294.2 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD FamPat7 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 2 affected sibs, unaffected non-carrier parents - - - - - - - - 2 Johan den Dunnen
+/. 9 c.1111C>G r.(?) p.(Arg371Gly) Unknown - pathogenic (dominant) g.13361210G>C g.13319210G>C - - SEPHS1_000003 possible germline mosaicism parent PubMed: Mullegama 2024, Journal: Mullegama 2024 SCV002103294.2 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD FamPat8 PubMed: Mullegama 2024, Journal: Mullegama 2024 sib - - - - - - - - 1 Johan den Dunnen
+/. 9 c.1111C>T r.(?) p.(Arg371Trp) Unknown - pathogenic (dominant) g.13361210G>A g.13319210G>A - - SEPHS1_000002 - PubMed: Mullegama 2024, Journal: Mullegama 2024 SCV002103293 .1 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. 9 c.1111C>T r.(?) p.(Arg371Trp) Unknown - pathogenic (dominant) g.13361210G>A g.13319210G>A - - SEPHS1_000002 - PubMed: Mullegama 2024, Journal: Mullegama 2024 SCV002103293 .1 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. 9 c.1111C>T r.(?) p.(Arg371Trp) Unknown - pathogenic (dominant) g.13361210G>A g.13319210G>A - - SEPHS1_000002 parents not available PubMed: Mullegama 2024, Journal: Mullegama 2024 SCV002103293 .1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Mullegama 2024, Journal: Mullegama 2024 patient, parents not available - - - - - - - - 1 Johan den Dunnen
+/. - c.1111C>T r.(?) p.(Arg371Trp) Unknown - pathogenic g.13361210G>A - - - SEPHS1_000002 - - - rs2131679103 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1112G>A r.(?) p.(Arg371Gln) Unknown - pathogenic (dominant) g.13361209C>T g.13319209C>T - - SEPHS1_000001 - PubMed: Mullegama 2024, Journal: Mullegama 2024 SCV002103295.1 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. 9 c.1112G>A r.(?) p.(Arg371Gln) Unknown - pathogenic (dominant) g.13361209C>T g.13319209C>T - - SEPHS1_000001 - PubMed: Mullegama 2024, Journal: Mullegama 2024 SCV002103295.1 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. 9 c.1112G>A r.(?) p.(Arg371Gln) Unknown - pathogenic (dominant) g.13361209C>T g.13319209C>T - - SEPHS1_000001 - PubMed: Mullegama 2024, Journal: Mullegama 2024 SCV002103295.1 - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 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.