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Variant ID | 560 |
---|---|
Genomic Coordinate (GRCh38) | g.22219050G>T |
Variant | c.1715G>T |
Variant Start Position | 1715 |
Location | Exon 17 |
Amino Acid Change | p.Gly572Val |
ACMG Call | Likely Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 32253725, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | abnormal bone development, pectus carinatum, bowed or bent leg |
ACMG Categories | - |
ACMG Explanations | - |
Variant in Clinvar | Yes |
ClinVar Classification | Likely pathogenic |
Categories In Literature | - |
No Contrary Evidence Found | No |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |