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Variant ID | 917 |
---|---|
Genomic Coordinate (GRCh38) | g.22247849A>T |
Variant | c.2148-2A>T |
Variant Start Position | 2148 |
Location | Intron 21 |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice acceptor |
Variant Type | Splicing |
PMID | 16636593, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pvs1, pm2 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22265966 ref:A alt:T was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | - |
No Contrary Evidence Found | TRUE |
ExAC Allele Frequency | 0 |
Thousand Genomes Allel Frequency | 0 |
Ontology Relations | - |
hg19 Mapping Failed | FALSE |
Literature Alleles | X-22265966-A-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22265966-A-T |
Other Alleles | - |
Note | nan |
Warnings | - |