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Variant ID | 428 |
---|---|
Genomic Coordinate (GRCh38) | g.22133622A>G |
Variant | c.1402A>G |
Variant Start Position | 1402 |
Location | Exon 12 |
Amino Acid Change | p.Lys468Glu |
ACMG Call | Uncertain Significance |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | Splicing |
PMID | 32329911, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | bone pain, bowed or bent legs |
ACMG Categories | - |
ACMG Explanations | - |
Variant in Clinvar | Yes |
ClinVar Classification | Uncertain/conflicting |
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 | - |