Full data view for gene CFTR

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

39 entries on 1 page. Showing entries 1 - 39.
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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     
?/. 4 c.350G>A r.(?) p.(Arg117His) Unknown - VUS g.117171029G>A g.117530975G>A - - CFTR_000006 - - - - Unknown - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.350G>A r.(?) p.(Arg117His) Unknown - pathogenic (recessive) g.117171029G>A g.117530975G>A R117H - CFTR_000006 see the CFTR2 database for details; classification recently changed, varying clinical consequence copy received from the CFTR2 database-6 - rs78655421 SUMMARY record - 1854/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 4 c.350G>A r.(?) p.(Arg117His) Parent #1 - pathogenic (recessive) g.117171029G>A g.117530975G>A [350G>A;1210−12T[5]] - CFTR_000006 see the CFTR2 database for details copy received from the CFTR2 database - - SUMMARY record - 102/142036 chromosomes CFTR - - - DNA SEQ - - PSORS - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 4 c.350G>A r.(?) p.(Arg117His) Parent #1 - likely pathogenic (!) g.117171029G>A g.117530975G>A [350G>A;1210−12T[7]] - CFTR_000006 see the CFTR2 database for details; varying clinical consequences copy received from the CFTR2 database - - SUMMARY record - 125/142036 chromosomes CFTR - - - DNA SEQ - - SPD - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117His) Unknown - pathogenic g.117171029G>A g.117530975G>A CFTR(NM_000492.3):c.350G>A (p.R117H, p.(Arg117His)), CFTR(NM_000492.4):c.350G>A (p.R117H) - CFTR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.350G>A r.(?) p.(Arg117His) Unknown - pathogenic g.117171029G>A g.117530975G>A CFTR(NM_000492.3):c.350G>A (p.R117H, p.(Arg117His)), CFTR(NM_000492.4):c.350G>A (p.R117H) - CFTR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.350G>A r.(?) p.(Arg117His) Unknown - pathogenic g.117171029G>A g.117530975G>A CFTR(NM_000492.3):c.350G>A (p.R117H, p.(Arg117His)), CFTR(NM_000492.4):c.350G>A (p.R117H) - CFTR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350G>A r.(?) p.(Arg117His) Unknown - VUS g.117171029G>A g.117530975G>A CFTR(NM_000492.3):c.350G>A (p.R117H, p.(Arg117His)), CFTR(NM_000492.4):c.350G>A (p.R117H) - CFTR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.350G>A r.(?) p.(Arg117His) Unknown - pathogenic g.117171029G>A g.117530975G>A CFTR(NM_000492.3):c.350G>A (p.R117H, p.(Arg117His)), CFTR(NM_000492.4):c.350G>A (p.R117H) - CFTR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A [350G>A;)TG12,5T;-4G>C] - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Parent #2 - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/. - c.350G>A r.(?) p.(Arg117His) Unknown - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117His) Unknown - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117His) Unknown - pathogenic (recessive) g.117171029G>A g.117530975G>A - - CFTR_000006 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
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