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Variant ID | 362 |
---|---|
Genomic Coordinate (GRCh38) | g.22114457G>A |
Variant | c.1174-1G>A |
Variant Start Position | 1174 |
Location | Intron 10 |
Amino Acid Change | p.? |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice acceptor |
Variant Type | Splicing |
PMID | 24836714, 18162710, 28506344, 30599486, 27840894, 34141703, 34806794 |
Article Count | 7 |
Times Observed | 6-10 |
Clinical Phenotype | Short Stature, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, genu varum, stunted growth, short stature |
ACMG Categories | pvs1, ps4m, pm2, pp1 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22132575 ref:G alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp1, pp3, ps4m |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22132575-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22132575-G-A |
Other Alleles | - |
Note | nan |
Warnings | - |