NM_015120.4:c.6064C>T

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  2. NM_015120.4:c.6064C>T

HGVS Expressions

  • NG_011690.1:g.71836C>T

Associated Genes

ALMS1 Centrosome and Basal Body Associated Protein
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Genomic Location

chr2:73452588

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203800.G.1Oman6Likely PathogenicAlstrom SyndromePatel et al, 2018 3 family members
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Contributors

  • Sayeeda Hana: 04.06.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 04.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.