Variant NM_000492.4:c.1731C>T
Name | NM_000492.4:c.1731C>T |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117230458C>T UCSC gnomAD |
#Exon/intron | exon 13 |
Legacy Name | Y577Y (1863C/T) |
Class | VUS |
Subclass | VUS3 |
WT sequence | ATTTATTAGACTCTCCTTTTGGATA C CTAGATGTTTTAACAGAAAAAGAAA |
Mutant sequence | ATTTATTAGACTCTCCTTTTGGATA T CTAGATGTTTTAACAGAAAAAGAAA |
Not found | dbSNP rs55928397 | 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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