rs141840552
| Chromosome | 16:70304215 |
| Reference allele | G |
| Alternate allele | A |
| Gene | AARS |
| Predicted Consequence | Exonic : Nonsynonymous SNV |
| HGVS nomenclature | AARS:NM_001605:c.C700T |
| Protein Change | p.P234S |
| ClinIndb Frequency | 0.0039 |
| ClinVar Interpretation | Conflicting interpretations of pathogenicity |
| ClinVar Review status | |
| ClinVar Phenotypes/Conditions | Charcot-Marie-Tooth disease, type 2 |
| VUS Score | VUS-I |
| ACMG | PM1 PP3 BS1 BS2 BP6 |
| GTEx | rs141840552 |
| 1000G | rs141840552 |
| gnomAD | rs141840552 |
| GenomeAsia 100K / GAsP | rs141840552 |
Allele Counts
| No. of ALT alleles | Total Alleles | No. of Homozygotes | No. of Hetrozygotes | ALT allele frequency |
| 22 | 5590 | 1 | 20 | 0.003936 |
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