Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 573 |
---|---|
Genomic Coordinate (GRCh38) | g.22219074A>C |
Variant | c.1739A>C |
Variant Start Position | 1739 |
Location | Exon 17 |
Amino Acid Change | p.His580Pro |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 22101457, 29460029, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pm2, pp3, ppc |
ACMG Explanations | pm2: chrX:22237191 ref:A alt:C was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
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 | X-22237191-A-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22237191-A-C |
Other Alleles | X-22237191-AT-CC X-22237191-AT-CA X-22237191-AT-CG |
Note | nan |
Warnings | - |