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rs28932178(C;C)

From SNPedia

Is agenotype
ofrs28932178
GeneNSD1
Chromosome5
Position177,210,575
mentionedby
Geno Mag Summary
(C;C)
(C;T)
(T;T) 0 common/normal

A Promethease user (User:Sarah_Sexton) reports the following:

"My oldest daughter and I have this genotype. My other daughter has Sotos Syndrome, which is caused by deletions or mutations on the NSD1 gene. Even though my first daughter and I do not have Sotos syndrome, having this genotype makes me wonder if they are wrong about the absence of carriers. (My daughter who has Sotos syndrome is rs28932178(C;T).)"

See rs28932178 for additional information.