NM_000427.2:c.648_649delGA

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HGVS Expressions

  • NG_011818.1:g.6895_6896delGA
  • NM_000427.2:c.648_649delGA
  • NP_000418.2:p.Gln216Hisfs*119

Associated Genes

Loricrin
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Genomic Location

chr1:153261597-153261598

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604117.1.1Iraq1PathogenicVohwinkel Syndrome, Variant FormKhalil et al, 2017
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Contributors

  • Sayeeda Hana: 29.07.2019

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 29.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.