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Details for ABCA7:c.3076C>T, p.Arg1026Cys

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
1052054	1052055

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3076C>T

PROTEIN CHANGE

p.Arg1026Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
9.653e-05	0.0006266	2.898e-05	0.0	0.0	9.38e-05	8.94e-05	0.0	3.269e-05

ESP
AA	EA
0.0009166	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.737603	Disease causing

DBSNP ID

1 combination linked to ABCA7:c.3076C>T, p.Arg1026Cys

1 disease linked to ABCA7:c.3076C>T, p.Arg1026Cys

Arthrogryposis syndrome

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