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Details for SEMA3A:c.1303G>A, p.Val435Ile

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83634712	84005396

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1303G>A

PROTEIN CHANGE

p.Val435Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0082	0.0008	0.0187	0.0	0.0229	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01364	0.003015	0.007258	0.01141	0.0001087	0.01031	0.0215	0.01354	0.008526

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.946036	Polymorphism

DBSNP ID

3 combinations linked to SEMA3A:c.1303G>A, p.Val435Ile

OLI1262; OLI1295; OLI1297

2 diseases linked to SEMA3A:c.1303G>A, p.Val435Ile

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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