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Details for HMBS:c.422+1G>T,

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
118960778	119090068

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.422+1G>T

PROTEIN CHANGE

None

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	6.355791	Disease causing

DBSNP ID

1 combination linked to HMBS:c.422+1G>T,

1 disease linked to HMBS:c.422+1G>T,

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