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Details for FUS:c.*1998T>C, None

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
31204757	31193436

VARIANT EFFECT

upstream gene variant

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.*1998T>C

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0008	0.0	0.0	0.006	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00203	0.0004921	0.001109	0.000247	0.0	0.002041	0.004118	0.003252	0.0004021

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.260023	None

DBSNP ID

1 combination linked to FUS:c.*1998T>C, None

1 disease linked to FUS:c.*1998T>C, None

Amyotrophic lateral sclerosis

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