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Variant ID | 587 |
---|---|
Genomic Coordinate (GRCh38) | g.22219280_22219283dup |
Variant | c.1768+177_1768+180dup |
Variant Start Position | 1768 |
Location | Intron 17 |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Intronic |
Variant Type | Splicing |
PMID | 24926462, 21902834, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | Short Stature, Other Musculoskeletal Abnormalities |
ACMG Categories | pm2, ppc |
ACMG Explanations | pm2: chrX:22237393 ref:A alt:ATAAG was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
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-22237393-A-ATAAG |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |