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Summary

Isoform:
Position:
17
Ref:
G
Mutation:
C
PTM impact:
none
PTM affected:
0
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

VACTERL association with hydrocephaly, X-linked, Heterotaxy, visceral, 1, X-linked, Congenital heart defects 1, nonsyndromic, 1

Minor Allele Frequency: (ESP6500)

[0.2947]

Minor Allele Frequency: (1000 Genomes)

[0.0794702]

External references

dbSNP:

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