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Details for SHROOM3:c.619C>T, p.His207Tyr

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
77659945	76738792

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.619C>T

PROTEIN CHANGE

p.His207Tyr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0014	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003008	0.0004927	0.0002891	0.0	0.0	0.008502	0.004733	0.002607	0.0

ESP
AA	EA
0.000227	0.003023

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.200855	Polymorphism

DBSNP ID

1 combination linked to SHROOM3:c.619C>T, p.His207Tyr

1 disease linked to SHROOM3:c.619C>T, p.His207Tyr

Isolated anencephaly

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