Variant NM_000492.4:c.1116+31A>C
Name | NM_000492.4:c.1116+31A>C |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117180431A>C UCSC gnomAD |
#Exon/intron | intron 8 |
Legacy Name | 1248+31 A/C |
Class | VUS |
Subclass | VUS3 |
WT sequence | GTACCATAATGCTGCATTATATACT A TGATTTAAATAATCAGTCAATAGAT |
Mutant sequence | GTACCATAATGCTGCATTATATACT C TGATTTAAATAATCAGTCAATAGAT |
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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