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Variant ID | 69 |
---|---|
Genomic Coordinate (GRCh38) | g.22047003C>T |
Variant | c.188-47C>T |
Variant Start Position | 188 |
Location | Intron 2 |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Benign | Effect Type | Intronic |
Variant Type | Splicing |
PMID | 19219621, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | bs1, ba1 |
ACMG Explanations | bs1: The overall allele frequency for chrX:22065121 ref:C alt:T is 0.171 in gnomAD exomes. ba1: The overall allele frequency for chrX:22065121 ref:C alt:T is 0.171 in gnomAD exomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | bs1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22065121-C-T |
GnomAD Alleles | X-22065121-C-T |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |