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Details for CHD7:c.307T>A, p.Ser103Thr

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61654298	60741739

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.307T>A

PROTEIN CHANGE

p.Ser103Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0052	0.0008	0.0029	0.0	0.0219	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0123	0.003296	0.01058	0.01451	0.0	0.01165	0.01849	0.01257	0.002878

ESP
AA	EA
0.004863	0.01704

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.61086	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.307T>A, p.Ser103Thr

1 disease linked to CHD7:c.307T>A, p.Ser103Thr

Kallmann syndrome

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