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Details for CCDC141:c.1521A>C, p.Gln507His

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179751485	178886758

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1521A>C

PROTEIN CHANGE

p.Gln507His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0008	0.0058	0.0	0.005	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003484	0.001118	0.002846	0.0	0.0	0.004451	0.005715	0.002946	0.0008851

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.991564	Polymorphism

DBSNP ID

1 combination linked to CCDC141:c.1521A>C, p.Gln507His

1 disease linked to CCDC141:c.1521A>C, p.Gln507His

Hypogonadotropic hypogonadism with partial puberty phenotype

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