Full data view for gene BCAS3

Information The variants shown are described using the NM_017679.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
Legend  

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     
?/. - c.321+17813A>T - - p.(=) Both (homozygous) g.58804499A>T g.60727138A>T - - BCAS3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.321+17813A>T - - p.(=) Both (homozygous) g.58804499A>T g.60727138A>T - - BCAS3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.584+7A>G likely benign r.(=) p.(=) Unknown g.58946051A>G - BCAS3(NM_001099432.1):c.584+7A>G (p.(=)) - BCAS3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1006G>T VUS r.(?) p.(Glu336*) Unknown g.59001780G>T - BCAS3(NM_001099432.1):c.1006G>T (p.Glu336*) - BCAS3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2374C>T VUS r.(?) p.(Arg792Cys) Unknown g.59161874C>T - BCAS3(NM_001099432.1):c.2419C>T (p.(Arg807Cys), p.(Arg792Cys)) - BCAS3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2425+67152G>C - - p.(=) Both (homozygous) g.59229077G>C g.61151716G>C - - BCAS3_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2425+67341A>G - - p.(=) Both (homozygous) g.59229266A>G g.61151905A>G - - BCAS3_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2425+67341A>G - - p.(=) Both (homozygous) g.59229266A>G g.61151905A>G - - BCAS3_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2425+67549C>T - - p.(=) Both (homozygous) g.59229474C>T g.61152113C>T - - BCAS3_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
Legend