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Variant ID | 717 |
---|---|
Genomic Coordinate (GRCh38) | g.22227616G>C |
Variant | c.2070+5G>C |
Variant Start Position | 2070 |
Location | Intron 20 |
Amino Acid Change | Intronic |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | - | Effect Type | Splice donor |
Variant Type | Splicing |
PMID | 34806794 |
Article Count | 1 |
Times Observed | 3-5 |
Clinical Phenotype | Gait abnormalities, Lower limb deformities, Short Stature |
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 | - |