Variant NM_000492.4:c.1002del
Name | NM_000492.4:c.1002del |
Protein name | NP_000483.3:p.(Ile336TyrfsTer33) |
Genomic name (hg19) | chr7:g.117180286del UCSC |
#Exon/intron | exon 8 |
Legacy Name | I336delG |
Class | VUS |
WT sequence | CACTAATCAAAGGAATCATCCTCCG G AAAATATTCACCACCATCTCATTCT |
Mutant sequence | CACTAATCAAAGGAATCATCCTCCG - AAAATATTCACCACCATCTCATTCT |
Not found | Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
No patient found in CFTR-France |
CFTR variants are clustered into five groups: |
|