Variant NM_000492.4:c.1900C>T
Name | NM_000492.4:c.1900C>T |
Protein name | NP_000483.3:p.(Gln634Ter) |
Genomic name (hg19) | chr7:g.117232121C>T UCSC gnomAD |
#Exon/intron | exon 14 |
Legacy Name | Q634X |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | TTTTTATGGGACATTTTCAGAACTC C AAAATCTACAGCCAGACTTTAGCTC |
Mutant sequence | TTTTTATGGGACATTTTCAGAACTC T AAAATCTACAGCCAGACTTTAGCTC |
dbSNP rs397508319 | Not found |
No patient found in CFTR-NGS catalogue |
No patient found in CFTR-France |
CFTR variants are clustered into five groups: |
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