Variant NM_000492.4:c.3140-16T>A
Name | NM_000492.4:c.3140-16T>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117251619T>A UCSC gnomAD |
#Exon/intron | intron 19 |
Class | VUS |
WT sequence | TTTATGTTATTTGCAATGTTTTCTA T GGAAATATTTCACAGGCAGGAGTCC |
Mutant sequence | TTTATGTTATTTGCAATGTTTTCTA A GGAAATATTTCACAGGCAGGAGTCC |
Not found | Not found | dbSNP rs767232138 | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
Pending (NBS) | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Pending (NBS) | 5773 | heterozygote | CF-causing - Trans VUS3 - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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