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Variant ID | 153 |
---|---|
Genomic Coordinate (GRCh38) | g.22076475G>C |
Variant | c.436+1G>C |
Variant Start Position | 436 |
Location | Intron 4 |
Amino Acid Change | p.? |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
Variant Type | Splicing |
PMID | 18625346, 29505567, 34141703, 27840894, 34806794 |
Article Count | 5 |
Times Observed | 3-5 |
Clinical Phenotype | stunted growth, genu varum |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22094593 ref:G alt:C was not found in gnomAD exomes or genomes. |
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-22094593-G-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22094593-G-C |
Other Alleles | - |
Note | nan |
Warnings | - |