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Details for FANCB:c.388A>G, p.Met130Val

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
14883245	14865123

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.388A>G

PROTEIN CHANGE

p.Met130Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.125e-05	0.0001535	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.271914	Polymorphism

DBSNP ID

1 combination linked to FANCB:c.388A>G, p.Met130Val

1 disease linked to FANCB:c.388A>G, p.Met130Val

Syndrome with 46,XY disorder of sex development

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