rs786205669

This is a variant in the THSD1 gene that changes a cysteine to an tyrosine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters3 publications

Lymphatic malformation 13 (LMPHM13); Non-immune hydrops fetalis (NIHF)

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About THSD1

The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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