Variant NM_000492.4:c.1679+1G>C
Name | NM_000492.4:c.1679+1G>C |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117227888G>C UCSC gnomAD |
#Exon/intron | intron 12 |
Legacy Name | 1811+1G>C |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | AACGAGCAAGAATTTCTTTAGCAAG G TGAATAACTAATTATTGGTCTAGCA |
Mutant sequence | AACGAGCAAGAATTTCTTTAGCAAG C TGAATAACTAATTATTGGTCTAGCA |
dbSNP rs397508263 | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 3 |
---|---|
CF | 3 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 1285 | heterozygote | VUS3 - Cis VUS1 - Cis CF-causing - Trans |
CF | 5672 | heterozygote | VUS3 - Cis VUS1 - Cis CF-causing - Trans |
CF | 3525 | heterozygote | CF-causing - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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