STXBP2: c.539_540delinsAA p.Cys180*


Bibliography:

Biallelic:

Yes

Monoallelic:

-

Described >1 patient:

-

Functional Studies:

-

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Interpreting the variant


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Clinical Evidence ClinVar -
UniProt -
Biological Relevance Functional residue Disordered
Variant Information dbSNP -
Ensembl variant
Population Allele Frequency ExAC -
gnomAD -

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