Full data view for gene SERAC1

Information The variants shown are described using the NM_032861.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 6 c.442C>T - r.(?) p.(Arg148*) Both (homozygous) g.158567859G>A g.158146827G>A - - SERAC1_000013 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MEGDEL 22683713-Pat3 PubMed: Wortmann 2012, Journal: Wortmann 2012 3-generation family, 3 affects (2F, M), niece of Pat6/7 F yes Turkey - >15y 0 - - 3 Johan den Dunnen
+/. 6 c.442C>T - r.(?) p.(Arg148*) Both (homozygous) g.158567859G>A g.158146827G>A - - SERAC1_000013 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat6 PubMed: Wortmann 2012, Journal: Wortmann 2012 sister of Pat7, niece of Pat3 F yes Turkey - >7y 0 - - 1 Johan den Dunnen
+/. 6 c.442C>T - r.(?) p.(Arg148*) Both (homozygous) g.158567859G>A g.158146827G>A - - SERAC1_000013 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat7 PubMed: Wortmann 2012, Journal: Wortmann 2012 brother of Pat6 M yes Turkey - 7d 0 - - 1 Johan den Dunnen
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