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Details for TTN:c.97070A>C,

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179396568	178531841

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.97070A>C

PROTEIN CHANGE

None

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
0.001642	0.0003232	2.904e-05	0.0	0.0	0.003346	0.002869	0.00116	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	Damaging	2.996934	Polymorphism

DBSNP ID

1 combination linked to TTN:c.97070A>C,

1 disease linked to TTN:c.97070A>C,

Primary immunodeficiency

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