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Variant ID | 152 |
---|---|
Genomic Coordinate (GRCh38) | g.22076479G>T |
Variant | c.436+5G>T |
Variant Start Position | 436 |
Location | Intron 4 |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Intronic |
Variant Type | Splicing |
PMID | 15057978, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pm2, ppc |
ACMG Explanations | pm2: chrX:22094597 ref:G alt:T was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Likely pathogenic |
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-22094597-G-T |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |