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Details for SHH:c.869G>A, p.Gly290Asp

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
155596114	155803420

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.869G>A

PROTEIN CHANGE

p.Gly290Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0056	0.0	0.0	0.0258	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003309	0.0	4.152e-05	0.003565	0.03078	0.006716	0.0001722	0.001812	0.001105

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.534282	Polymorphism

DBSNP ID

4 combinations linked to SHH:c.869G>A, p.Gly290Asp

OLI1085; OLI1086; OLI1487; OLI1503

1 disease linked to SHH:c.869G>A, p.Gly290Asp

Congenital hypothyroidism

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