Details for GHRHR:c.812+4A>C,

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
3101410830974493
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GHRHR
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_000823
CDNA CHANGE c.812+4A>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.402878Polymorphism
DBSNP ID NA
1 combination linked to GHRHR:c.812+4A>C, OLI1520
1 disease linked to GHRHR:c.812+4A>C, 46,XY disorder of sex development
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