Variant NM_000492.4:c.579+5G>A
Name | NM_000492.4:c.579+5G>A |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117174424G>A UCSC gnomAD |
#Exon/intron | intron 5 |
Legacy Name | 711+ 5G- >A |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | AACCTGAACAAATTTGATGAAGTAT G TACCTATTGATTTAATCTTTTAGGC |
Mutant sequence | AACCTGAACAAATTTGATGAAGTAT A TACCTATTGATTTAATCTTTTAGGC |
dbSNP rs78440224 | 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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