Full data view for gene BCAP31

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 7i_8_ c.903+318_*445{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.152961800_152967144del g.153696345_153701689del del ex8 - BCAP31_000041 - PubMed: Cacciagli 2013 - - Germline - - - 0 - DNA SEQ - - ? Fam2PatIII6 PubMed: Cacciagli 2013 - M - France - 1y 0 - - 1 Johan den Dunnen
+/. 7i_8_ c.903+318_*445{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.152961800_152967144del g.153696345_153701689del del ex8 - BCAP31_000041 - PubMed: Cacciagli 2013 - - Germline - - - 0 - DNA SEQ - - ? Fam2PatIII7 PubMed: Cacciagli 2013 - M - France - 2y 0 - - 1 Johan den Dunnen
+/. 7i_8_ c.903+318_*445{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.152961800_152967144del g.153696345_153701689del del ex8 - BCAP31_000041 - PubMed: Cacciagli 2013 - - Germline - - - 0 - DNA SEQ - - ? Fam2PatIV1 PubMed: Cacciagli 2013 - M - France - >13y 0 - - 1 Johan den Dunnen
+/. 7i_8_ c.903+318_*445{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.152961800_152967144del g.153696345_153701689del del ex8 - BCAP31_000041 SLC6A8 transcript level 0.46 PubMed: Cacciagli 2013 - - Germline - - - 0 - DNA SEQ - - ? Fam2PatIII5 PubMed: Cacciagli 2013 4-generation family, 4 affected (4M), 3 unaffected carrier females M - France - 7m 0 - - 4 Johan den Dunnen
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