Variant NM_000492.4:c.274G>T
Name | NM_000492.4:c.274G>T |
Protein name | NP_000483.3:p.(Glu92*) |
Genomic name (hg19) | chr7:g.117170953G>T UCSC gnomAD |
#Exon/intron | exon 4 |
Legacy Name | E92X |
Class | disease-causing |
WT sequence | TTTCTCTGTTTTTCCCCTTTTGTAG G AAGTCACCAAAGCAGTACAGCCTCT |
Mutant sequence | TTTCTCTGTTTTTCCCCTTTTGTAG T AAGTCACCAAAGCAGTACAGCCTCT |
dbSNP rs121908751 | 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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