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Details for BRCA1:c.4039A>G, p.Arg1347Gly

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
41243509	43091492

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.4039A>G

PROTEIN CHANGE

p.Arg1347Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0029	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003823	0.001169	0.001652	0.001093	0.0	0.001944	0.00685	0.004092	0.0009161

ESP
AA	EA
0.001135	0.006744

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.196668	Polymorphism

DBSNP ID

1 combination linked to BRCA1:c.4039A>G, p.Arg1347Gly

1 disease linked to BRCA1:c.4039A>G, p.Arg1347Gly

Isolated anencephaly

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