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Variant ID | 473 |
---|---|
Genomic Coordinate (GRCh38) | g.22178344_22178345del |
Variant | c.1553del |
Variant Start Position | 1553 |
Location | Exon 14 |
Amino Acid Change | p.Phe518Serfs*4 |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small deletion |
PMID | 25060345, 34806794 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | Short Stature, Hearing Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries |
ACMG Categories | pvs1, pm2, pp1 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22196457 ref:AT alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22196457-AT-A |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |