Details for SRA1:c.94C>G, p.Gln32Glu

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
139936825140557240
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SRA1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001035235.3
CDNA CHANGE c.94C>G
PROTEIN CHANGE p.Gln32Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00320.00150.00140.00.0070.0061

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0071480.0019520.0026350.018885.478e-050.0093020.0088970.0085780.007093

ESP
AAEA
0.0015910.0071
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.871297Polymorphism
DBSNP ID rs35610885
1 combination linked to SRA1:c.94C>G, p.Gln32Glu OLI574
1 disease linked to SRA1:c.94C>G, p.Gln32Glu Disorder of sex development
Found any issues with the data on this page? Report this entry.