Details for LZTR1:c.2023G>A, p.Gly675Arg

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
2135011520995826
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LZTR1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_006767
CDNA CHANGE c.2023G>A
PROTEIN CHANGE p.Gly675Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.189e-050.00018520.00.00.00.03.528e-050.03.267e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.202659Disease causing
DBSNP ID NA
1 combination linked to LZTR1:c.2023G>A, p.Gly675Arg OLI1542
1 disease linked to LZTR1:c.2023G>A, p.Gly675Arg 46,XY disorder of sex development

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