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Variant ID | 273 |
---|---|
Genomic Coordinate (GRCh38) | g.22097019T>C |
Variant | c.914T>C |
Variant Start Position | 914 |
Location | Exon 8 |
Amino Acid Change | p.Leu305Pro |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 18775977, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Cardio Vascular Disease, Lower Limb Deformities, Kidney Disease, Thyroid |
ACMG Categories | pm2, pp1, pp3 |
ACMG Explanations | pm2: chrX:22115137 ref:T alt:C was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
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-22115137-T-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22115137-T-C |
Other Alleles | X-22115137-TG-CC X-22115137-TG-CT X-22115137-TG-CA |
Note | nan |
Warnings | - |