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Details for RECQL4:c.2237C>T, p.Ala746Val

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
145738828	144513444

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2237C>T

PROTEIN CHANGE

p.Ala746Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000231	0.0002016	0.0008141	0.0	0.0	0.0	0.0002004	0.0003357	3.273e-05

ESP
AA	EA
0.0002385	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.506585	Disease causing

DBSNP ID

1 combination linked to RECQL4:c.2237C>T, p.Ala746Val

1 disease linked to RECQL4:c.2237C>T, p.Ala746Val

Disorder of sex development

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