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Details for BRCA1:c.2521C>T, p.Arg841Trp

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
41245027	43093010

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2521C>T

PROTEIN CHANGE

p.Arg841Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.003	0.0	0.0	0.005	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001673	0.0009847	0.0009836	0.0	0.0	0.0007886	0.002494	0.00229	0.00183

ESP
AA	EA
0.0009079	0.00314

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.219537	Polymorphism

DBSNP ID

1 combination linked to BRCA1:c.2521C>T, p.Arg841Trp

1 disease linked to BRCA1:c.2521C>T, p.Arg841Trp

Isolated anencephaly

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