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Details for GHR:c.427G>T, p.Val143Leu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
42695158	42695056

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.427G>T

PROTEIN CHANGE

p.Val143Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0023	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001154	0.0004922	0.0002027	0.0	0.0	0.0	0.0001144	0.0	3.268e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	1.478997	Polymorphism

DBSNP ID

3 combinations linked to GHR:c.427G>T, p.Val143Leu

OLI1538; OLI1541; OLI1559

2 diseases linked to GHR:c.427G>T, p.Val143Leu

46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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