NM_003322.6:c.901C>T

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  2. NM_003322.6:c.901C>T

HGVS Expressions

  • NG_009077.1:g.11770C>T
  • NM_003322.6:c.901C>T
  • NP_003313.3:p.Gln301Ter

Associated Genes

Tubby-Like Protein 1
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Genomic Location

chr6:35506101

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

201070350

Clinvar

828151

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613842.G.3Saudi Arabia4PathogenicLeber Congenital Amaurosis 15Patel et al, 2018 2 members of a family
613843.G.1Saudi Arabia6PathogenicLeber Congenital Amaurosis 15Patel et al, 2018 3 members of a family
613843.G.2Saudi Arabia26PathogenicLeber Congenital Amaurosis 15Patel et al, 2018 13 members of a family
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Contributors

  • Sayeeda Hana: 01.07.2020

Edit History

  • Sayeeda Hana: 01.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.