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Details for CAT:c.830G>C, p.Trp277Ser

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
34477676	34456129

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.830G>C

PROTEIN CHANGE

p.Trp277Ser

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	4.465888	Disease causing

DBSNP ID

1 combination linked to CAT:c.830G>C, p.Trp277Ser

1 disease linked to CAT:c.830G>C, p.Trp277Ser

Isolated anencephaly

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