Variants
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rs1664428364

  • Pathogenic

Your Genotype

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Description

Reference Allele

C


Alternative Allele

A

Chromosome

2


Location

8733503


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_020738.4(KIDINS220):c.3994G>T (p.Glu1332Ter)


Allele

A


Clinical Significance

Pathogenic

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