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Variant ID | 640 |
---|---|
Genomic Coordinate (GRCh38) | g.22221748G>A |
Variant | c.1899+5G>A |
Variant Start Position | 1899 |
Location | Intron 18 |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Intronic |
Variant Type | Splicing |
PMID | 31102713, 19219621, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
ACMG Categories | ps3, pm2, ppc |
ACMG Explanations | pm2: chrX:22239865 ref:G alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc, ps3, pvs1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | 31102713: fx/exon skipping 31102713: assay/reverse transcription pcr 31102713: method/site-directed mutagenesis 31102713: model/minigene 31102713: flg/partial loss of function |
hg19 Mapping Failed | No |
Literature Alleles | X-22239865-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |