Full data view for gene CYFIP1

Information The variants shown are described using the NM_014608.2 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     
?/. 24 c.2707G>A r.(?) p.(Gly903Ser) Both (homozygous) - - g.22990087G>A g.22882979C>T - - CYFIP1_000001 - - - - Germline yes - - 0 - DNA SEQ-NG Blood - CTRCT - - 2-generation family, 2 affecteds, patient I.2 F yes Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 24 c.2707G>A r.(?) p.(Gly903Ser) Both (homozygous) - - g.22990087G>A g.22882979C>T - - CYFIP1_000001 - - - - Germline yes - - 0 - DNA SEQ-NG Blood - CTRCT - - 2-generation family, sister of PatI.2 F yes Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 24 c.2707G>A r.(?) p.(Gly903Ser) Unknown - - g.22990087G>A g.22882979C>T - - CYFIP1_000001 - - - - Germline - - - 0 - DNA SEQ-NG Blood - Healthy/Control - - Father of 00025020 and 00025118 M ? Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 24 c.2707G>A r.(?) p.(Gly903Ser) Unknown - - g.22990087G>A g.22882979C>T - - CYFIP1_000001 - - - - Germline - - - 0 - DNA SEQ-NG Blood - Healthy/Control - - Mother of 00025020 and 00025118 F ? Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
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