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Variant ID | 132 |
---|---|
Genomic Coordinate (GRCh38) | g.22076439_22076440insGCCAAA |
Variant | c.401_402insGCCAAA |
Variant Start Position | 401 |
Location | Exon 4 |
Amino Acid Change | p.Lys134_Ala135insProLys |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Insertion |
Variant Type | Small insertion |
PMID | 28383812, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Lower Limb Deformities |
ACMG Categories | pm2, pm4, pp1 |
ACMG Explanations | pm2: chrX:22094555 ref:G alt:GAAGCCA was not found in gnomAD exomes or genomes. pm4: This variant causes an in-frame length change and is not in a repeat region. |
Variant in Clinvar | No |
ClinVar Classification | - |
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-22094555-G-GAAGCCA |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |