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Mutation:
CLCN2 R747H
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Leukoencephalopathy with ataxia
Minor Allele Frequency: (ESP6500)
[0.1076]
Minor Allele Frequency: (1000 Genomes)
[0.09984029999999999]
PTM Site: 743S
Affected site:
Position: 743
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 747H | AASEKLESCEK[R/H]RKLK | 4 |
distal
|
| 739K | AAS[E/K]EKLESCEKRKLK | 4 |
distal
|
External references
dbSNP:
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