Details for LHCGR:c.536+1G>A,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
4895059448723455
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LHCGR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000233
CDNA CHANGE c.536+1G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.534587Disease causing
DBSNP ID NA
1 combination linked to LHCGR:c.536+1G>A, OLI1552
1 disease linked to LHCGR:c.536+1G>A, 46,XY disorder of sex development
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