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Details for SIGLEC6:c.292G>T,

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
52034549	51531295

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.292G>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0048	0.0008	0.0086	0.0	0.0149	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.008806	0.001566	0.00486	0.02692	0.0	0.006514	0.0117	0.01148	0.006729

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	1.699106	Polymorphism

DBSNP ID

1 combination linked to SIGLEC6:c.292G>T,

1 disease linked to SIGLEC6:c.292G>T,

Primary immunodeficiency

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