Variant summary External database IDs Pathogenicity predictions Publications

Variant summary

Mnemonic Gene Chr-pos-ref-alt Variant HGVS Protein HGVS # publications # cases
E102Q SIGMAR1 9-34637265-C-G NM_005866.3:c.304G>C NP_005857.1:p.E102Q 1 0

External database IDs

Clinvar Clingen allele registry dbSNP
30238 CA259767 rs387906829

Pathogenicity predictions

The most severe consequence is missense_variant Ensembl Variant Effect Predictor

Transcript ID Polyphen score Polyphen prediction SIFT score SIFT prediction
ENST00000277010.9 1 probably_damaging 0 deleterious

Publications

()


No abstract available
()

No abstract available