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Variant ID | 998 |
---|---|
Genomic Coordinate (GRCh38) | g.22047091T>C |
Variant | c.229T>C |
Variant Start Position | 229 |
Location | Exon 3 |
Amino Acid Change | p.Cys77Arg |
ACMG Call | nan |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 34141703, 27840894 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | short stature, genu varum, teeth falling out |
ACMG Categories | pm1, pm2, pp1, pp3, ppc, ppc_het |
ACMG Explanations | pm1: Located in the Peptidase M13 domain. pm2: Allele frequencies are below 0.0005 in gnomAD. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc, ppc_het, pp1 |
No Contrary Evidence Found | True |
ExAC Allele Frequency | 0 |
Thousand Genomes Allel Frequency | 0 |
Ontology Relations | - |
hg19 Mapping Failed | False |
Literature Alleles | X-22065209-T-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22065209-T-C |
Other Alleles | X-22065209-TGT-CGG X-22065209-TGT-CGC X-22065209-TGT-CGA X-22065209-TGT-AGA X-22065209-TGT-AGG |
Note | nan |
Warnings | - |