Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 984 |
---|---|
Genomic Coordinate (GRCh38) | g.22035253T>A |
Variant | c.118+2130T>A |
Variant Start Position | 118 |
Location | Intron 1 |
Amino Acid Change | p.? |
ACMG Call | nan |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Intronic |
Variant Type | Splicing |
PMID | 19581284 |
Article Count | 1 |
Times Observed | <3 |
Clinical Phenotype | - |
ACMG Categories | pm2 |
ACMG Explanations | pm2: Allele frequencies are below 0.0005 in gnomAD. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | - |
No Contrary Evidence Found | True |
ExAC Allele Frequency | 0 |
Thousand Genomes Allel Frequency | 0 |
Ontology Relations | - |
hg19 Mapping Failed | False |
Literature Alleles | X-22053371-T-A |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |