Full data view for gene SERAC1

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

2 entries on 1 page. Showing entries 1 - 2.
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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     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 13i c.1403+1G>C - r.1309_1403del p.Thr437Lysfs*12 Both (homozygous) g.158538758C>G g.158117726C>G - - SERAC1_000006 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MEGDEL 22683713-Pat5 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - >11y 0 - - 1 Johan den Dunnen
+/. 13i c.1403+1G>C - r.1309_1403del p.Thr437Lysfs*12 Both (homozygous) g.158538758C>G g.158117726C>G - - SERAC1_000006 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEGDEL 22683713-Pat12 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - >10y 0 - - 1 Johan den Dunnen
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