rs201902227

  • Benign

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Description

The NC_012920.1:m.8478C>T (YP_003024030.1:p.Ser38Leu) variant in MTATP8 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2, BP4

Reference Allele

C


Alternative Allele

T

Chromosome

MT


Location

8478


Variant Type

SNP

Phenotypes

ClinVar

Name

NC_012920.1:m.8478C>T


Allele

T


Clinical Significance

Benign

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