Variant summary External database IDs Population frequencies Pathogenicity predictions Phenotype Publications

Variant summary

Mnemonic Gene Chr-pos-ref-alt Variant HGVS Protein HGVS # publications # cases
c.*58T>C SIGMAR1 9-34635571-A-G NM_005866.4:c.*58T>C 1 1

External database IDs

Clinvar Clingen allele registry dbSNP
N/A CA5035797 rs749412508

Population frequencies

Reported below are exome frequencies from gnomAD v2.1.1 non-neuro dataset 9-34635571-A-G

Population Frequency
Global MAF 0.00003006
African/ African American 0.00000000
Latino/ Admixed american 0.00000000
Ashkenazi Jewish 0.00000000
East Asian 0.00000000
Finnish 0.00000000
Non-Finnish European 0.00000000
South Asian 0.00020155
Other 0.00000000
XX 0.00001092
XY 0.00004628

Pathogenicity predictions

The most severe consequence is 3_prime_UTR_variant Ensembl Variant Effect Predictor

Transcript ID Polyphen score Polyphen prediction SIFT score SIFT prediction

Phenotype

Publications

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No abstract available
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No abstract available