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Variant ID | 272 |
---|---|
Genomic Coordinate (GRCh38) | g.22097012T>A |
Variant | c.907T>A |
Variant Start Position | 907 |
Location | Exon 8 |
Amino Acid Change | p.Ser303Thr |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Missense |
Variant Type | SNV |
PMID | 30607568, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pm2, ppc |
ACMG Explanations | pm2: chrX:22115130 ref:T alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | X-22115130-T-A |
Other Alleles | X-22115130-TCT-ACG X-22115130-TCT-ACC X-22115130-TCT-ACA |
Note | nan |
Warnings | - |