Variant NM_000492.4:c.3276C>G
Name | NM_000492.4:c.3276C>G |
Protein name | NP_000483.3:p.(Tyr1092*) |
Genomic name (hg19) | chr7:g.117251771C>G UCSC gnomAD |
#Exon/intron | exon 20 |
Legacy Name | Y1092X(C>G) |
Class | disease-causing |
WT sequence | TACATACTGCCAACTGGTTCTTGTA C CTGTCAACACTGCGCTGGTTCCAAA |
Mutant sequence | TACATACTGCCAACTGGTTCTTGTA G CTGTCAACACTGCGCTGGTTCCAAA |
dbSNP rs121908761 | 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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