rs1137654


Chromosome9:101570336
Reference alleleA
Alternate alleleT
GeneGALNT12
Predicted ConsequenceExonic : Nonsynonymous SNV
HGVS nomenclatureGALNT12:NM_024642:c.A356G
Protein Changep.E119G
ClinIndb Frequency0.0303
ClinVar InterpretationBenign
ClinVar Review status
ClinVar Phenotypes/ConditionsHereditary cancer-predisposing syndrome
VUS Scoreno status
ACMG
PM1
BA1
BS1
  
GTExrs1137654
1000Grs1137654
gnomADrs1137654
GenomeAsia 100K / GAsPrs1137654

Allele Counts

No. of
ALT alleles
Total
Alleles
No. of
Homozygotes
No. of
Hetrozygotes
ALT allele
frequency
17533671610.03027


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