Variant NM_000492.4:c.1911del
Name | NM_000492.4:c.1911del |
Protein name | NP_000483.3:p.(Gln637HisfsTer26) |
Genomic name (hg19) | chr7:g.117232132del UCSC |
#Exon/intron | exon 14 |
Legacy Name | 2043delG |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | CATTTTCAGAACTCCAAAATCTACA G CCAGACTTTAGCTCAAAACTCATGG |
Mutant sequence | CATTTTCAGAACTCCAAAATCTACA - CCAGACTTTAGCTCAAAACTCATGG |
Not found | dbSNP rs1554389296 | Not found |
No patient found in CFTR-NGS catalogue |
No patient found in CFTR-France |
CFTR variants are clustered into five groups: |
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