STX11: c.687dup p.Gln230Alafs*125


Bibliography:

Biallelic:

Yes

Monoallelic:

-

Described >1 patient:

Yes

Functional Studies:

Yes

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Interpreting the variant


Learn more about the variant

Clinical Evidence ClinVar -
UniProt -
Biological Relevance Functional residue domain t-SNARE coiled-coil homology
Variant Information dbSNP rs1554294422
Ensembl variant
Population Allele Frequency ExAC -
gnomAD -

Explore the biomedical information

Disease Protein Gene
DECIPHER STRING Ensembl
HPO UniProt GeneCards
GeneReviews HGNC
MalaCards NCBI
MedGen OMIM
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