Variant NM_000492.4:c.2604A>G
Name | NM_000492.4:c.2604A>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117235097A>G UCSC gnomAD |
#Exon/intron | exon 15 |
Legacy Name | V868V (2736G/A) |
Class | VUS |
Subclass | VUS3 |
WT sequence | TTTTTGTGCTAATTTGGTGCTTAGT A ATTTTTCTGGCAGAGGTAAGAATGT |
Mutant sequence | TTTTTGTGCTAATTTGGTGCTTAGT G ATTTTTCTGGCAGAGGTAAGAATGT |
Not found | dbSNP rs1800105 | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 3 |
---|---|
CF | 2 |
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 4710 | heterozygote | CFTR-RD-causing- Undef CF-causing- Undef |
CF | 1517 | heterozygote | CF-causing- Undef CF-causing- Undef |
CF | 3026 | heterozygote | CF-causing - Cis 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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