Variant NM_000492.4:c.2556T>G
Name | NM_000492.4:c.2556T>G |
Protein name | NP_000483.3:p.(Tyr852*) |
Genomic name (hg19) | chr7:g.117235049T>G UCSC gnomAD |
#Exon/intron | exon 15 |
Legacy Name | Y852X |
Class | disease-causing |
WT sequence | CTACATGGAACACATACCTTCGATA T ATTACTGTCCACAAGAGCTTAATTT |
Mutant sequence | CTACATGGAACACATACCTTCGATA G ATTACTGTCCACAAGAGCTTAATTT |
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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