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Details for HIC1:p.Trp511Cys

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
1961517	2058223

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Trp511Cys

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	4.503646	Polymorphism

DBSNP ID

1 combination linked to HIC1:p.Trp511Cys

1 disease linked to HIC1:p.Trp511Cys

Holoprosencephaly

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