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Details for SEMA3E:c.305T>C, p.Met102Thr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83098590	83469274

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.305T>C

PROTEIN CHANGE

p.Met102Thr

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
7.973e-06	0.0	0.0	0.0	0.0	0.0	8.814e-06	0.0001633	0.0

ESP
AA	EA
0.0	0.0001164

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.128905	Polymorphism

DBSNP ID

1 combination linked to SEMA3E:c.305T>C, p.Met102Thr

1 disease linked to SEMA3E:c.305T>C, p.Met102Thr

Congenital hypogonadotropic hypogonadism

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