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Details for CHD7:c.6107C>T, p.Pro2036Leu

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61765391	60852832

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.6107C>T

PROTEIN CHANGE

p.Pro2036Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001126	0.0	2.897e-05	0.0	0.001335	0.0	2.658e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001221

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.97724	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.6107C>T, p.Pro2036Leu

2 diseases linked to CHD7:c.6107C>T, p.Pro2036Leu

MODY; Normosmic congenital hypogonadotropic hypogonadism

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