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)     

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     
+/. 16_16i c.1822_1828+10delinsACCAACAGG r.spl? p.? Parent #1 - pathogenic g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG - SERAC1_000011 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat11 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Poland - >8y 0 - - 1 Johan den Dunnen
+/. 16_16i c.1822_1828+10delinsACCAACAGG r.spl? p.? Parent #2 - pathogenic g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG - SERAC1_000011 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat10 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Poland - >5y 0 - - 1 Johan den Dunnen
+/. 16_16i c.1822_1828+10delinsACCAACAGG r.1822_1828+10delinsACCAACAGGins1828+11_1829-1 p.? Parent #2 - pathogenic g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG - SERAC1_000011 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEGDEL 22683713-Pat13 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - 9y 0 - - 1 Johan den Dunnen
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