Variant NM_000492.4:c.3617C>G
Name | NM_000492.4:c.3617C>G |
Protein name | NP_000483.3:p.(Ser1206*) |
Genomic name (hg19) | chr7:g.117267724C>G UCSC gnomAD |
#Exon/intron | exon 22 |
Legacy Name | S1206X |
Class | disease-causing |
WT sequence | GTGAAGAAAGATGACATCTGGCCCT C AGGGGGCCAAATGACTGTCAAAGAT |
Mutant sequence | GTGAAGAAAGATGACATCTGGCCCT G AGGGGGCCAAATGACTGTCAAAGAT |
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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