Details for STAR:c.361C>T, p.Arg121Trp

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3800391138146393
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE STAR
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000349.2
CDNA CHANGE c.361C>T
PROTEIN CHANGE p.Arg121Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.00.0030.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0017180.00043060.0016480.00019840.04.632e-050.0030420.00097780.0004246

ESP
AAEA
0.00.001744
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.394177Polymorphism
DBSNP ID rs34908868
1 combination linked to STAR:c.361C>T, p.Arg121Trp OLI667
1 disease linked to STAR:c.361C>T, p.Arg121Trp 46,XY disorder of sex development
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