Variant NM_000492.4:c.3367+45T>C
Name | NM_000492.4:c.3367+45T>C |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117251907T>C UCSC gnomAD |
#Exon/intron | intron 20 |
Legacy Name | 3499+45T/C |
Class | VUS |
WT sequence | TTTAGCTAAGCATTTAAGTAAAAAA T TTTCAATGAATAAAATGCTGCATTC |
Mutant sequence | TTTAGCTAAGCATTTAAGTAAAAAA C TTTCAATGAATAAAATGCTGCATTC |
Not found | dbSNP rs369353024 | 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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