Variant NM_000492.4:c.3180del
Name | NM_000492.4:c.3180del |
Protein name | NP_000483.3:p.(Gly1061AspfsTer22) |
Genomic name (hg19) | chr7:g.117251675del UCSC |
#Exon/intron | exon 20 |
Legacy Name | 3312delA |
Class | VUS |
WT sequence | TCACTCATCTTGTTACAAGCTTAAA A GGACTATGGACACTTCGTGCCTTCG |
Mutant sequence | TCACTCATCTTGTTACAAGCTTAAA - GGACTATGGACACTTCGTGCCTTCG |
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: |
|