NM_006623.4:c.488G>A

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  2. NM_006623.4:c.488G>A

HGVS Expressions

  • NG_009188.1:g.20285G>A
  • NM_006623.4:c.488G>A
  • NP_006614.2:p.Arg163Gln

Associated Genes

Phosphoglycerate Dehydrogenase
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Genomic Location

chr1:119727080

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587777483

Clinvar

139535

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256520.5Saudi Arabia2PathogenicNeu-Laxova Syndrome 1Shaheen et al, 2014
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Contributors

  • Sayeeda Hana: 04.08.2020

Edit History

  • Sayeeda Hana: 05.08.2020
  • Sayeeda Hana: 04.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.