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Details for ERCC2:c.311T>G, p.Phe104Cys

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
45871937	45368679

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.311T>G

PROTEIN CHANGE

p.Phe104Cys

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	Possibly Damaging	3.759256	Disease causing

DBSNP ID

1 combination linked to ERCC2:c.311T>G, p.Phe104Cys

1 disease linked to ERCC2:c.311T>G, p.Phe104Cys

Isolated anencephaly

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