Variant NM_000492.4:c.3492dup
Name | NM_000492.4:c.3492dup |
Protein name | NP_000483.3:p.(Lys1165Ter) |
Genomic name (hg19) | chr7:g.117267599dup UCSC |
#Exon/intron | exon 22 |
Legacy Name | K1165X |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | AGATGCGATCTGTGAGCCGAGTCTT T- AAGTTCATTGACATGCCAACAGAAG |
Mutant sequence | AGATGCGATCTGTGAGCCGAGTCTT TT AAGTTCATTGACATGCCAACAGAAG |
dbSNP rs387906379 | 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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