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Details for CBS:c.1105C>T, p.Arg369Cys

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
44480591	43060481

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1105C>T

PROTEIN CHANGE

p.Arg369Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0023	0.0	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003069	0.001248	0.001477	0.006893	0.0	0.002264	0.004947	0.003291	0.0

ESP
AA	EA
0.001135	0.003953

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.288118	Disease causing

DBSNP ID

1 combination linked to CBS:c.1105C>T, p.Arg369Cys

1 disease linked to CBS:c.1105C>T, p.Arg369Cys

Isolated anencephaly

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