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Details for DRG1:c.118C>T, p.Arg40Ter

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
31796681	31400695

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.118C>T

PROTEIN CHANGE

p.Arg40Ter

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
3.981e-06	0.0	0.0	9.921e-05	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.285652	Disease causing

DBSNP ID

1 combination linked to DRG1:c.118C>T, p.Arg40Ter

1 disease linked to DRG1:c.118C>T, p.Arg40Ter

Arthrogryposis syndrome

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