Details for NCOR1:c.6754C>T, p.His2252Tyr

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
1594294816039634
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NCOR1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_006311.3
CDNA CHANGE c.6754C>T
PROTEIN CHANGE p.His2252Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00140.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00076520.00030840.00055050.00.09.252e-050.0013740.0011439.83e-05

ESP
AAEA
0.00090790.001977
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.984146Polymorphism
DBSNP ID rs61755986
1 combination linked to NCOR1:c.6754C>T, p.His2252Tyr OLI573
1 disease linked to NCOR1:c.6754C>T, p.His2252Tyr Disorder of sex development
Found any issues with the data on this page? Report this entry.