Details for GHRHR:c.269-4C>T,

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
3100947830969863
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GHRHR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000823
CDNA CHANGE c.269-4C>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.988e-050.00.00.00.00027180.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging0.16275Polymorphism
DBSNP ID NA
1 combination linked to GHRHR:c.269-4C>T, OLI1565
1 disease linked to GHRHR:c.269-4C>T, Syndrome with 46,XY disorder of sex development

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