Details for AR:c.1833T>A, p.Asn611Lys

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6690591667686074
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AR
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_000044
CDNA CHANGE c.1833T>A
PROTEIN CHANGE p.Asn611Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.42426Disease causing
DBSNP ID NA
1 combination linked to AR:c.1833T>A, p.Asn611Lys OLI1570
1 disease linked to AR:c.1833T>A, p.Asn611Lys Syndrome with 46,XY disorder of sex development

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