Variant NM_000492.4:c.4242+71G>T
Name | NM_000492.4:c.4242+71G>T |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117305689G>T UCSC gnomAD |
#Exon/intron | intron 26 |
Class | VUS |
Subclass | VUS3 |
WT sequence | CTTGATAACAATCTCACATGTGATA G TTCCTGCAAATTGCAACAATGTACA |
Mutant sequence | CTTGATAACAATCTCACATGTGATA T TTCCTGCAAATTGCAACAATGTACA |
Not found | Not found | dbSNP no rs | Not found |
Reference | PMID | Splicing | mRNA level | Maturation | Localization | Channel fonction (Cl-) | Bicarbonate |
Bergougnoux et al, 2015 | 25797027 | ✓ |
« ✓ » indicates the type of analysis performed and not the results
No patient found in CFTR-NGS catalogue |
No patient found in CFTR-France |
CFTR variants are clustered into five groups: |
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