Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 842 |
---|---|
Genomic Coordinate (GRCh38) | g.22094102A>G |
Variant | c.849+3A>G |
Variant Start Position | 849 |
Location | Intron 7 |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Intronic |
Variant Type | Splicing |
PMID | 33295632, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | bp2 |
ACMG Explanations | - |
Variant in Clinvar | Yes |
ClinVar Classification | Benign |
Categories In Literature | bp2 |
No Contrary Evidence Found | TRUE |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | FALSE |
Literature Alleles | X-22112220-A-G |
GnomAD Alleles | X-22112220-A-G |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |