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)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

Re-site     

VIP     

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Template     

Technique     

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Disease     

ID_report     

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Panel size     

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?/. 11 c.1521_1523del VUS r.(?) p.(Phe508del) Unknown g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 11 c.1521_1523del VUS r.(?) p.(Phe508del) Unknown g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 11 c.1521_1523del VUS r.(?) p.(Phe508del) Unknown g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 11 c.1521_1523del VUS r.(?) p.(Phe508del) Unknown g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 11 c.1521_1523del VUS r.(?) p.(Phe508del) Unknown g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
+/+ 11 c.1521_1523del pathogenic (recessive) r.(?) p.(Phe508del) Unknown g.117199646_117199648del g.117559592_117559594del F508del, c.1521_1523delCTT - CFTR_000001 see the CFTR2 database for details copy received from the CFTR2 database-1 - rs113993960 SUMMARY record - 98735/141340 chromosomes CFTR - 0 - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. - c.1521_1523del pathogenic r.(?) p.(Phe508del) Unknown g.117199646_117199648del - CFTR(NM_000492.3):c.1521_1523delCTT (p.F508del) - CFTR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1521_1523del pathogenic r.(?) p.(Phe508del) Unknown g.117199646_117199648del - CFTR(NM_000492.3):c.1521_1523delCTT (p.F508del) - CFTR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1521_1523del pathogenic r.(?) p.(Phe508del) Unknown g.117199646_117199648del - CFTR(NM_000492.3):c.1521_1523delCTT (p.F508del) - CFTR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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