rs867699717
This variant is located in the AMPH gene.
▶ClinVar annotation
About AMPH
This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
View all AMPH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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