Unique variants in gene BCAS3

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. 2 - c.321+17813A>T - - p.(=) g.58804499A>T g.60727138A>T - - BCAS3_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.584+7A>G likely benign r.(=) p.(=) g.58946051A>G - BCAS3(NM_001099432.1):c.584+7A>G (p.(=)) - BCAS3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1006G>T VUS r.(?) p.(Glu336*) g.59001780G>T - BCAS3(NM_001099432.1):c.1006G>T (p.Glu336*) - BCAS3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2374C>T VUS r.(?) p.(Arg792Cys) g.59161874C>T - BCAS3(NM_001099432.1):c.2419C>T (p.(Arg807Cys), p.(Arg792Cys)) - BCAS3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2425+67152G>C - - p.(=) g.59229077G>C g.61151716G>C - - BCAS3_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.2425+67341A>G - - p.(=) g.59229266A>G g.61151905A>G - - BCAS3_000003 - - - - Germline - - - - - Yu Sun
?/. 1 - c.2425+67549C>T - - p.(=) g.59229474C>T g.61152113C>T - - BCAS3_000005 - - - - Germline - - - - - Yu Sun
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