Variant NM_000492.4:c.1680-99T>C
Name | NM_000492.4:c.1680-99T>C |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117230308T>C UCSC gnomAD |
#Exon/intron | intron 12 |
Legacy Name | 1812- 99 T- >C |
Class | VUS |
Subclass | VUS1 |
WT sequence | TTTCAGTGAATCGATGTGGTGACCA T ATTGTAATGCATGTAGTGAACTGTT |
Mutant sequence | TTTCAGTGAATCGATGTGGTGACCA C ATTGTAATGCATGTAGTGAACTGTT |
Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 2 |
---|---|
CFTR-RD | 2
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 3125 | heterozygote | CF-causing- Undef varying clinical consequence- Undef |
CRS-NP | 3161 | heterozygote | CF-causing- Undef varying clinical consequence- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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