NM_001378778.1:c.5278G>A

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HGVS Expressions

  • NG_042810.1:g.164962G>A
  • NM_001378778.1:c.5278G>A
  • NP_001365707.1:p.Ala1760Thr
  • NC_000009.12:g.13119603C>T

Associated Genes

Multiple PDZ Domain Protein
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1554644827

Clinvar

548150

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615219.7Kuwait2PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Shaheen et al. 2017 Patient has 2 distinct disorders- Hydroc...
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Contributors

  • Sayeeda Hana: 10.10.2022

Edit History

  • Sayeeda Hana: 10.10.2022
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© CAGS 2024. All rights reserved.