rs74626221


Chromosome4:178363496
Reference alleleC
Alternate alleleA
GeneAGA
Predicted ConsequenceExonic : Nonsynonymous SNV
HGVS nomenclatureAGA:NM_000027:c.G34C
Protein Changep.V12L
AGA
ClinIndb Frequency0.002
ClinVar InterpretationLikely benign
ClinVar Review status
ClinVar Phenotypes/ConditionsAspartylglucosaminuria
VUS Scoreno status
ACMG
BS1
BP4
BP6
  
GTExrs74626221
1000Grs74626221
gnomADrs74626221
GenomeAsia 100K / GAsPrs74626221

Allele Counts

No. of
ALT alleles
Total
Alleles
No. of
Homozygotes
No. of
Hetrozygotes
ALT allele
frequency
1155880110.001969


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