Details for NR5A1:c.614_615insC, p.Gln206ThrfsTer20

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
127262624124500345
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE NR5A1
REFERENCE ALLELE T
ALTERNATE ALLELE TG
TRANSCRIPT NM_004959
CDNA CHANGE c.614_615insC
PROTEIN CHANGE p.Gln206ThrfsTer20
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00.00.00.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.070477Disease causing
DBSNP ID rs1234904066
2 combinations linked to NR5A1:c.614_615insC, p.Gln206ThrfsTer20 OLI575; OLI668
2 diseases linked to NR5A1:c.614_615insC, p.Gln206ThrfsTer20 Disorder of sex development; 46,XY disorder of sex development
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