GENETIC ENCYCLOPEDIA
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gene: ANOS1

id3730
symbolANOS1
organismHomo sapiens
full nameanosmin 1
summaryMutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]
variant-disease

GRCh38/hg38 Xp22.31(chrX:8619710-8740650)x3 AND See cases

GRCh38/hg38 Xp22.31(chrX:8628853-8737453)x2 AND See cases

NM_000216.3(ANOS1):c.711G>A (p.Trp237Ter) AND Kallmann syndrome 1

NM_000216.3(ANOS1):c.774G>A (p.Trp258Ter) AND Kallmann syndrome 1

KAL1, 11-BP DUP, NT158 AND Kallmann syndrome 1

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