Variant NM_000492.4:c.2989-69C>G
Name | NM_000492.4:c.2989-69C>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117250504C>G UCSC gnomAD |
#Exon/intron | intron 18 |
Class | VUS |
WT sequence | CAAAAAAAAAAAAAGAAATAAATCA C TGACACACTTTGTCCACTTTGCAAT |
Mutant sequence | CAAAAAAAAAAAAAGAAATAAATCA G TGACACACTTTGTCCACTTTGCAAT |
Not found | Not found | dbSNP no rs | 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) | 5310 | heterozygote | CF-causing- Undef VUS4- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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