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Variant ID | 468 |
---|---|
Genomic Coordinate (GRCh38) | g.22178319G>C |
Variant | c.1529G>C |
Variant Start Position | 1529 |
Location | Exon 14 |
Amino Acid Change | p.Arg510Pro |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 23079138, 15057978, 16636593, 24926462, 21902834, 34806794 |
Article Count | 6 |
Times Observed | < 3 |
Clinical Phenotype | Short Stature, Other Musculoskeletal Abnormalities |
ACMG Categories | pm2, pp3, ppc |
ACMG Explanations | pm2: chrX:22196436 ref:G 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 | Yes |
ClinVar Classification | Likely pathogenic |
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-22196436-G-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22196436-G-C |
Other Alleles | X-22196436-GC-CT X-22196436-GC-CA X-22196436-GC-CG |
Note | nan |
Warnings | - |