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Details for CCDC141:c.3111A>T, p.Lys1037Asn

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179718301	178853574

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3111A>T

PROTEIN CHANGE

p.Lys1037Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001497	0.0	0.0001159	0.002581	0.0	0.007576	0.001488	0.002124	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.349455	Polymorphism

DBSNP ID

1 combination linked to CCDC141:c.3111A>T, p.Lys1037Asn

1 disease linked to CCDC141:c.3111A>T, p.Lys1037Asn

Hypogonadotropic hypogonadism with partial puberty phenotype

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