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Details for ABCA7:c.5092C>T, p.Arg1698Trp

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
1058211	1058212

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.5092C>T

PROTEIN CHANGE

p.Arg1698Trp

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
3.186e-05	6.161e-05	2.892e-05	0.0	0.0	0.0	0.0	0.0	0.000196

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.894102	Disease causing

DBSNP ID

2 combinations linked to ABCA7:c.5092C>T, p.Arg1698Trp

1 disease linked to ABCA7:c.5092C>T, p.Arg1698Trp

Arthrogryposis syndrome

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