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Mutation:
CLCN2 R701W
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 704S
Affected site:
Position: 704
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 710R | PALKRGPSVTRNL[G/R]GE | 6 |
distal
|
| 701W | PALK[R/W]RGPSVTRNLGE | 3 |
distal
|
| 699F | PA[L/F]LKRGPSVTRNLGE | 5 |
distal
|
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