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Variant ID | 506 |
---|---|
Genomic Coordinate (GRCh38) | g.22190503G>T |
Variant | c.1645+1G>T |
Variant Start Position | 1645 |
Location | Intron 15 |
Amino Acid Change | Splice donor |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | nan | Effect Type | Splice donor |
Variant Type | Splicing |
PMID | 34806794 |
Article Count | 1 |
Times Observed | < 3 |
Clinical Phenotype | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature |
ACMG Categories | - |
ACMG Explanations | - |
Variant in Clinvar | nan |
ClinVar Classification | nan |
Categories In Literature | nan |
No Contrary Evidence Found | nan |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | nan |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |