rs6653680
This variant is located in the PTCHD1 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout PTCHD1
This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]
View all PTCHD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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