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Variant ID | 130 |
---|---|
Genomic Coordinate (GRCh38) | g.22076433_22076436dup |
Variant | c.395_398dup |
Variant Start Position | 395 |
Location | Exon 4 |
Amino Acid Change | p.Gln133Hisfs*14 |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small duplication |
PMID | 24926462, 23079138, 21902834, 34806794 |
Article Count | 4 |
Times Observed | < 3 |
Clinical Phenotype | nephrocalcinosis |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22094548 ref:C alt:CCATA was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22094548-C-CCATA |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |