View unique variants in gene CFTR

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Inheritance     

IthaID     

Cytogenetic_Location     

Owner     
+/. 1 8 NC_000007.14:g.117540178delT NM_000492.3:c.948delT NP_000483.3:p.Phe316Leufs NC_000007.14:g.117540178delT Schwartz KM et al. (2009); Claustres M et al. (1992); CFTR_000002 - - - - - - Georgia Charalambous
+/. 1 11 NC_000007.14:g.117559592_117559594delCTT NM_000492.3:c.1521_1523delCTT NP_000483.3:p.Phe508del NC_000007.14:g.117559592_117559594delCTT Quint et al. (2005) CFTR_000004 rs113993960 - - Georgia - - Georgia Charalambous
+/. 1 12 NC_000007.14:g.117587800G>A NM_000492.3:c.1646G>A NP_000483.3:p.Ser549Asn NC_000007.14:g.117587800G>A Takano H (1991) CFTR_000006 - - - - - - Georgia Charalambous
./. 1 24 NC_000007.14:g.117652877C>G NM_000492.3:c.3909C>G NP_000483.3:p.Asn1303Lys NC_000007.14:g.117652877C>G McDonagh EM et al. (2015) CFTR_000005 - - - - - - Georgia Charalambous
+/. 1 11 c.1521_1523del c.1521_1523delCTT p.(Phe508del) g.117559592_117559594delCTT Quint et al. (2005) CFTR_000001 rs113993960 50% CFTR in CY - - - - Savvas Nikolaou
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