STX11: c.842T>G p.Phe281Cys


Bibliography:

Biallelic:

-

Monoallelic:

-

Described >1 patient:

-

Functional Studies:

-

Information from in silico tools

Predictor Score Label
CADD v1.5 11.26 Neutral
PolyPhen-2 0.0 Benign
PON-P2 0.204 Neutral
SIFT 0.188 Tolerated

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Interpreting the variant


Learn more about the variant

Clinical Evidence ClinVar -
UniProt -
Biological Relevance Functional residue -
Variant Information dbSNP rs560006390
Ensembl variant
Population Allele Frequency ExAC 4.3e-05
gnomAD 3.9e-05

Explore the biomedical information

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

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