rs376239580


Chromosome20:5283278
Reference alleleG
Alternate alleleA
GenePROKR2
Predicted ConsequenceExonic : Nonsynonymous SNV
HGVS nomenclaturePROKR2:NM_144773:c.C563T
Protein Changep.S188L
ClinIndb Frequency0.0014
ClinVar InterpretationLikely pathogenic
ClinVar Review status
ClinVar Phenotypes/ConditionsHypogonadotropic hypogonadism 7 with or without anosmia
VUS Scoreno status
ACMG
PM1
PP5
  
GTExrs376239580
1000Grs376239580
gnomADrs376239580
GenomeAsia 100K / GAsPrs376239580

Allele Counts

No. of
ALT alleles
Total
Alleles
No. of
Homozygotes
No. of
Hetrozygotes
ALT allele
frequency
85590080.001431


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