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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
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BMC Medical Genomics

ISSN: 1755-8794

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