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Details for TNRC6C:c.1022G>A, p.Gly341Glu

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
76046165	78050084

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1022G>A

PROTEIN CHANGE

p.Gly341Glu

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
4.099e-06	0.0	0.0	0.0	0.0	4.742e-05	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.858151	Disease causing

DBSNP ID

1 combination linked to TNRC6C:c.1022G>A, p.Gly341Glu

1 disease linked to TNRC6C:c.1022G>A, p.Gly341Glu

Arthrogryposis syndrome

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