rs41306504


Chromosome9:101594103
Reference alleleG
Alternate alleleA
GeneGALNT12
Predicted ConsequenceExonic : Nonsynonymous SNV
HGVS nomenclatureGALNT12:NM_024642:c.G781A
Protein Changep.D261N
ClinIndb Frequency0.0125
ClinVar InterpretationBenign
ClinVar Review status
ClinVar Phenotypes/ConditionsHereditary cancer-predisposing syndrome
VUS Scoreno status
ACMG
PM1
BS1
BP6
  
GTExrs41306504
1000Grs41306504
gnomADrs41306504
GenomeAsia 100K / GAsPrs41306504

Allele Counts

No. of
ALT alleles
Total
Alleles
No. of
Homozygotes
No. of
Hetrozygotes
ALT allele
frequency
7055901680.01252


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