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Details for COBL:c.1199C>T, p.Ser400Leu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
51111287	51043590

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1199C>T

PROTEIN CHANGE

p.Ser400Leu

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
2.001e-05	0.0	0.0	0.0	0.0	0.0	1.783e-05	0.0	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.119303	Polymorphism

DBSNP ID

1 combination linked to COBL:c.1199C>T, p.Ser400Leu

1 disease linked to COBL:c.1199C>T, p.Ser400Leu

Isolated anencephaly

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