Variant NM_000492.4:c.3837G>A
Name | NM_000492.4:c.3837G>A |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117282611G>A UCSC gnomAD |
#Exon/intron | exon 23 |
Legacy Name | L1279L (3969G/A) |
Class | VUS |
Subclass | VUS3 |
WT sequence | GTGTGTCTTGGGATTCAATAACTTT G CAACAGTGGAGGAAAGCCTTTGGAG |
Mutant sequence | GTGTGTCTTGGGATTCAATAACTTT A CAACAGTGGAGGAAAGCCTTTGGAG |
Not found | dbSNP no rs | 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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