Variants
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rs200793989

  • Conflicting interpretations of pathogenicity

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Description

p.Gln2257Gln in Exon 21 of TRIOBP: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.1% (55/53588) o f European chromosomes by the Exome Aggregation Consortium (http://exac.broadins titute.org/; dbSNP rs200793989).

Reference Allele

G


Alternative Allele

A

Chromosome

22


Location

37769297


Variant Type

SNP

Genes

ClinVar

Name

NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)


Allele

A


Clinical Significance

Conflicting interpretations of pathogenicity

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