U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WAC
(R505* +2 more)
Single nucleotide variant
(nonsense)
DeSanto-Shinawi syndrome due to WAC point mutation
+1 more
GPathogenic
WAC
(L629fs +2 more)
Deletion
(frameshift variant)
DeSanto-Shinawi syndrome due to WAC point mutation
Gnot provided