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Table 1 Molecular genetic identification of the patient

From: First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report

Gene (Isoform)

Phenotype MIM number (Mode of inheritance)

Variant

Zygosity

MAF gnomAD [%]

Classification

SYNE1

(NM_033071.3)

618,484 (AR)

612,998(AD)

610,743 (AR)

c.23415-3799C>G

p.(?)

chr6:152,489,259

Homozygous

0

Variant of Uncertain Significance

  1. Keywords
  2. Gene: Approved HGNC gene symbol
  3. Isoform: RefSeq accession number of the reported isoform
  4. Phenotype MIM Number: ID of the Online Mendelian Inheritance in Man® (OMIM®) disease entry
  5. Mode of inheritance: Supposed mode of inheritance for the described condition
  6. Variant; Nucleotide and amino add change end position as well as genomic position (hg19)
  7. Zygosity: Variant zygosity
  8. MAF gnomAD: Minor allele frequency in the gnomAD database in %
  9. Classification: classification of the variant based on the ACMG recommendations
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Italian Journal of Pediatrics

ISSN: 1824-7288

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