rs141840552


Chromosome16:70304215
Reference alleleG
Alternate alleleA
GeneAARS
Predicted ConsequenceExonic : Nonsynonymous SNV
HGVS nomenclatureAARS:NM_001605:c.C700T
Protein Changep.P234S
ClinIndb Frequency0.0039
ClinVar InterpretationConflicting interpretations of pathogenicity
ClinVar Review status
ClinVar Phenotypes/ConditionsCharcot-Marie-Tooth disease, type 2
VUS ScoreVUS-I
ACMG
PM1
PP3
BS1
BS2
BP6
  
GTExrs141840552
1000Grs141840552
gnomADrs141840552
GenomeAsia 100K / GAsPrs141840552

Allele Counts

No. of
ALT alleles
Total
Alleles
No. of
Homozygotes
No. of
Hetrozygotes
ALT allele
frequency
2255901200.003936


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