Full data view for gene CFTR

Information The variants shown are described using the NM_000492.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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     
?/. 14 c.2002C>T r.(?) p.(Arg668Cys) Unknown - VUS g.117232223C>T g.117592169C>T - - CFTR_000059 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2002C>T r.(?) p.(Arg668Cys) Unknown - VUS g.117232223C>T g.117592169C>T - - CFTR_000059 - - - - Unknown - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2002C>T r.(?) p.(Arg668Cys) Unknown - VUS g.117232223C>T g.117592169C>T - - CFTR_000059 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/- 14 c.2002C>T r.(?) p.(Arg668Cys) Unknown - benign g.117232223C>T g.117592169C>T R668C - CFTR_000059 see the CFTR2 database for details copy received from the CFTR2 database-59 - rs1800100 SUMMARY record - 68/142036 chromosomes CFTR - 0 - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/. - c.2002C>T r.(?) p.(Arg668Cys) Parent #1 - benign g.117232223C>T g.117592169C>T - - CFTR_000059 - - - rs1800100 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.2002C>T r.(?) p.(Arg668Cys) Unknown - likely benign g.117232223C>T g.117592169C>T CFTR(NM_000492.3):c.2002C>T (p.R668C) - CFTR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2002C>T r.(?) p.(Arg668Cys) Unknown - benign g.117232223C>T g.117592169C>T CFTR(NM_000492.3):c.2002C>T (p.R668C) - CFTR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2002C>T r.(?) p.(Arg668Cys) Unknown - VUS g.117232223C>T g.117592169C>T CFTR(NM_000492.3):c.2002C>T (p.R668C) - CFTR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2002C>T r.(?) p.(Arg668Cys) Unknown - likely benign g.117232223C>T g.117592169C>T CFTR(NM_000492.3):c.2002C>T (p.R668C) - CFTR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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