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Details for ERBB4:c.1972A>T, p.Ile658Phe

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
212495294	211630569

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1972A>T

PROTEIN CHANGE

p.Ile658Phe

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002985	0.0	0.0	0.0	0.003371	0.0	8.796e-06	0.0	0.000392

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.576077	Disease causing

DBSNP ID

4 combinations linked to ERBB4:c.1972A>T, p.Ile658Phe

OLI867; OLI882; OLI905; OLI907

2 diseases linked to ERBB4:c.1972A>T, p.Ile658Phe

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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