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Details for H6PD:c.1171_1181del, p.Ser391AlafsTer102

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
9323722	9263663

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

GAGCCAGTGCCT

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1171_1181del

PROTEIN CHANGE

p.Ser391AlafsTer102

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
None	None	4.572251	Disease causing

DBSNP ID

1 combination linked to H6PD:c.1171_1181del, p.Ser391AlafsTer102

1 disease linked to H6PD:c.1171_1181del, p.Ser391AlafsTer102

Recurrent Pregnancy Loss

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