NM_000348.4:c.164T>A

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  2. NM_000348.4:c.164T>A

HGVS Expressions

  • NG_008365.1:g.5235T>A
  • NM_000348.4:c.164T>A
  • NP_000339.2:p.Leu55Gln
  • NC_000002.12:g.31580737A>T

Associated Genes

Steroid 5-Alpha-Reductase 2
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121434245

Clinvar

3339

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
264600.G.1Lebanon16PathogenicPseudovaginal Perineoscrotal HypospadiasHochberg et al. 1996 Large kindred with Pseudovaginal Perineo...
264600.G.2Lebanon6PathogenicPseudovaginal Perineoscrotal HypospadiasHochberg et al. 1996 Large kindred with Pseudovaginal Perineo...
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Contributors

  • Pratibha Nair: 02.04.2020

Edit History

  • Pratibha Nair: 12.09.2022
  • Pratibha Nair: 02.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.