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Variant ID | 904 |
---|---|
Genomic Coordinate (GRCh38) | g.22227527_22227528insTGAC |
Variant | c.1986_1987insTGAC |
Variant Start Position | 1986 |
Location | Exon 20 |
Amino Acid Change | p.Asp663* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | Splicing |
PMID | 24926462, 23079138, 16636593, 34806794, 10439971 |
Article Count | 5 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22245645 ref:GAC alt:G was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc |
No Contrary Evidence Found | TRUE |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | FALSE |
Literature Alleles | X-22245645-GAC-G |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |