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Details for DNAH10:p.Trp4348Cys

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
124417979	123933432

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Trp4348Cys

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.382026	None

DBSNP ID

1 combination linked to DNAH10:p.Trp4348Cys

1 disease linked to DNAH10:p.Trp4348Cys

Juvenile amyotrophic lateral sclerosis

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