Full data view for gene CFTR

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
?/. 1i_3i c.54-5940_273+10250del r.del? p.(Ser18Argfs*16) Unknown - VUS g.117138367_117159446del g.117498313_117519392del INTRON 1_3, 21,080 BP DEL - CFTR_000014 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 1i_3i c.54-5940_273+10250del r.(?) p.(Ser18Argfs*16) Unknown - pathogenic (recessive) g.117138367_117159446del g.117498313_117519392del CFTRdele2,3 - CFTR_000014 see the CFTR2 database for details copy received from the CFTR2 database-14 - - SUMMARY record - 417/142036 chromosomes CFTR - 0 - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. 1i_3i c.54-5940_273+10250del r.(?) p.(Ser18Argfs*16) Parent #1 - pathogenic (recessive) g.117138367_117159446del g.117498313_117519392del - - CFTR_000014 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
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