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Details for CXCL6:c.239dup, p.Val81GlyfsTer44

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
74702809	73837092

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

GT

TRANSCRIPT

N.A.

CDNA CHANGE

c.239dup

PROTEIN CHANGE

p.Val81GlyfsTer44

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.9964	0.0	0.0029	0.0	0.0109	0.0051

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005282	0.001602	0.001893	0.0	5.459e-05	0.01072	0.007704	0.004939	0.003152

ESP
AA	EA
0.001641	0.00739

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.321915	Polymorphism

DBSNP ID

2 combinations linked to CXCL6:c.239dup, p.Val81GlyfsTer44

2 diseases linked to CXCL6:c.239dup, p.Val81GlyfsTer44

Isolated anencephaly; Craniorachischisis

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