NM_138425.4:c.33G>C

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  2. NM_138425.4:c.33G>C

HGVS Expressions

  • NG_034262.1:g.5338G>C
  • NM_138425.4:c.33G>C
  • NP_612434.1:p.Leu11Phe
  • NC_000012.12:g.6944154G>C

Associated Genes

Chromosome 12 Open Reading Frame 57
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

782168213

Clinvar

1017217

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
218340.15.1Jordan2Likely PathogenicTemtamy SyndromeFroukh. 2017 Parents had five spontaneous abortions. ...
218340.15.1.GJordan4Likely PathogenicFroukh. 2017 Parents and two unaffected siblings of 2...
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Contributors

  • Pratibha Nair: 14.09.2023

Edit History

  • Pratibha Nair: 14.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.