Variant NM_000492.4:c.2490+5G>T
Name | NM_000492.4:c.2490+5G>T |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117232716G>T UCSC gnomAD |
#Exon/intron | intron 14 |
Class | VUS |
Subclass | VUS4 |
WT sequence | ATTAACGAAGAAGACTTAAAGGTAG G TATACATCGCTTGGGGGTATTTCAC |
Mutant sequence | ATTAACGAAGAAGACTTAAAGGTAG T TATACATCGCTTGGGGGTATTTCAC |
Not found | 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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