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Variant ID | 478 |
---|---|
Genomic Coordinate (GRCh38) | g.22178382T>C |
Variant | c.1586+6T>C |
Variant Start Position | 1586 |
Location | Intron 14 |
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 | 18625346, 31102713, 20157195, 34806794 |
Article Count | 4 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | ps3, pm2, ppc |
ACMG Explanations | pm2: chrX:22196499 ref:T alt:C was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc, ps3 |
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-22196499-T-C |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |