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Details for NDST1:p.Arg132Cys

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
149901210	150521648

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg132Cys

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
0.0001432	0.0001231	0.0	0.0	5.437e-05	0.0	0.0001055	0.0001629	0.0006533

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.394576	Disease causing

DBSNP ID

1 combination linked to NDST1:p.Arg132Cys

1 disease linked to NDST1:p.Arg132Cys

Holoprosencephaly

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