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Details for BLM:c.2333C>G, p.Ser778Cys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
91312388	90769158

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2333C>G

PROTEIN CHANGE

p.Ser778Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000175	0.0	0.0001445	0.002579	0.0	0.0	7.912e-05	0.0004888	3.266e-05

ESP
AA	EA
0.0002275	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.978605	Disease causing

DBSNP ID

1 combination linked to BLM:c.2333C>G, p.Ser778Cys

1 disease linked to BLM:c.2333C>G, p.Ser778Cys

Primary ovarian failure

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