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ClinVar Genomic variation as it relates to human health

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NM_000152.5(GAA):c.1781G>A (p.Arg594His)

Top reviewed classifications are shown here.
Reviewed by expert panel

No data submitted for somatic clinical impact


No data submitted for oncogenicity

Variant Details


Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant


Text-mined citations for rs775450536 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 17, 2024