Variant NM_000492.4:c.4243-20A>G
Name | NM_000492.4:c.4243-20A>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117306942A>G UCSC gnomAD |
#Exon/intron | intron 26 |
Class | VUS |
Subclass | VUS3 |
WT sequence | TGACCTGCCTTCTGTCCCAGATCTC A CTAACAGCCATTTCCCTAGGTCATA |
Mutant sequence | TGACCTGCCTTCTGTCCCAGATCTC G CTAACAGCCATTTCCCTAGGTCATA |
Not found | Not found | dbSNP rs138025486 | 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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