NM_002778.4:c.1005+1G>A

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HGVS Expressions

  • NG_009301.1:g.36087G>A
  • NM_002778.4:c.1005+1G>A
  • NP_002769.1:p.?
  • NC_000010.11:g.71820239C>T

Associated Genes

Prosaposin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

113365744

Clinvar

1330309

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610539.1.1United Arab Emirates2Likely PathogenicGaucher Disease, Atypical, due to Saposin C DeficiencyMohamed et al. 2022
610539.1.2United Arab Emirates2Likely PathogenicGaucher Disease, Atypical, due to Saposin C DeficiencyMohamed et al. 2022 Sibling of 610539.1.1
610539.2.1United Arab Emirates2Likely PathogenicGaucher Disease, Atypical, due to Saposin C DeficiencyMohamed et al. 2022
610539.2.2United Arab Emirates2Likely PathogenicGaucher Disease, Atypical, due to Saposin C DeficiencyMohamed et al. 2022 Sibling of 610539.2.1
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Contributors

  • Pratibha Nair: 30.06.2022

Edit History

  • Pratibha Nair: 04.01.2023
  • Asha Deepthi: 05.12.2022
  • Pratibha Nair: 30.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.