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Variant ID | 255 |
---|---|
Genomic Coordinate (GRCh38) | g.22094105dup |
Variant | c.849+6_849+7insT |
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 | Small insertion |
PMID | 19219621, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
ACMG Categories | ps3, pm2, pp1 |
ACMG Explanations | pm2: chrX:22113485 ref:G alt:T was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp1, ps3 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | 11502821: assay/reverse transcription pcr 11502821: flg/partial loss of function 11502821: fx/activation of cryptic splice site 11502821: model/patient rna sample |
hg19 Mapping Failed | No |
Literature Alleles | X-22113485-G-T |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |