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Variant ID | 191 |
---|---|
Genomic Coordinate (GRCh38) | g.22077656T>G |
Variant | c.617T>G |
Variant Start Position | 617 |
Location | Exon 5 |
Amino Acid Change | p.Leu206Trp |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 16636593, 21293852, 23813354, 24857004, 34806794 |
Article Count | 5 |
Times Observed | 3-5 |
Clinical Phenotype | Short Stature, Lower Limb Deformities |
ACMG Categories | pm2, pp1, pp3 |
ACMG Explanations | pm2: chrX:22095774 ref:T alt:G was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22095774-T-G |
GnomAD Alleles | - |
DBNSFP Alleles | X-22095774-T-G |
Other Alleles | - |
Note | nan |
Warnings | - |