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Table 1 Identified variant in this study

From: Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation

Gene/transcript* Variant location Variant Chromosome position (GRCh37) Zygosity1 OMIM number2 Inheritance pattern3 Variant Classification4
MITF
ENST00000352241.4
NM_198159.3
Exon 9 c.1026dup p.(Asn343Glufs*27) Chr3: 70,008,434_70,008,435 Het 193,510 AD Pathogenic
  1. *Ensemble Transcript ID starts with ENST, RefSeq (NCBI) Transcript ID starts with NM
  2. 1Het: Heterozygous
  3. 2OMIM number: Six-digit number assigned to each phenotype in Online Mendelian Inheritance in Man (OMIM) database
  4. 3AD: Autosomal dominant
  5. 4Based on American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants, 2015