Details for NR5A1:c.70delC, p.His24ThrfsTer51

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
127265604124503325
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE NR5A1
REFERENCE ALLELE TG
ALTERNATE ALLELE T
TRANSCRIPT NM_004959
CDNA CHANGE c.70delC
PROTEIN CHANGE p.His24ThrfsTer51
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.402597Disease causing
DBSNP ID NA
1 combination linked to NR5A1:c.70delC, p.His24ThrfsTer51 OLI573
1 disease linked to NR5A1:c.70delC, p.His24ThrfsTer51 Disorder of sex development
Found any issues with the data on this page? Report this entry.