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Variant ID | 871 |
---|---|
Genomic Coordinate (GRCh38) | g.22178382T>A |
Variant | c.1586+6T>A |
Variant Start Position | 1586 |
Location | Intron 14 |
Amino Acid Change | Intronic |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Intronic |
Variant Type | Splicing |
PMID | 21885902, 34806794 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | - |
ACMG Categories | pm2, ppc |
ACMG Explanations | pm2: chrX:22196499 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 | TRUE |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | FALSE |
Literature Alleles | X-22196499-T-A |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |