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Variant ID | 214 |
---|---|
Genomic Coordinate (GRCh38) | g.22090447_22090448del |
Variant | c.682_683del |
Variant Start Position | 682 |
Location | Exon 6 |
Amino Acid Change | p.Ser228Profs*9 |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small deletion |
PMID | 16636593, 9199930, 33639975, 21553362, 34806794 |
Article Count | 5 |
Times Observed | 3-5 |
Clinical Phenotype | hearing loss, renal calcification, hypothyroidism |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22108561 ref:ACT alt:A was not found in gnomAD exomes or genomes. chrX:22108564 ref:C alt:CT 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-22108561-ACT-A X-22108564-C-CT |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |