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Variant ID | 347 |
---|---|
Genomic Coordinate (GRCh38) | g.22111539dup |
Variant | c.1152dup |
Variant Start Position | 1152 |
Location | Exon 10 |
Amino Acid Change | p.Arg385* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small insertion |
PMID | 23813354, 23813354, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pvs1, pm2 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22129658 ref:A alt:T was not found in gnomAD exomes or genomes. chrX:22129656 ref:A alt:AT was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | - |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22129656-A-AT |
GnomAD Alleles | - |
DBNSFP Alleles | X-22129658-A-T |
Other Alleles | X-22129658-AGA-TAG X-22129658-AG-TA |
Note | nan |
Warnings | - |