NM_170707.4:c.1774G>A

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  2. NM_170707.4:c.1774G>A

HGVS Expressions

  • NG_008692.2:g.60991G>A
  • NM_170707.4:c.1774G>A
  • NP_733821.1:p.Gly592Arg
  • NC_000001.11:g.156138563G>A

Associated Genes

Lamin A/C
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205448

Clinvar

190987

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248370.1Saudi Arabia2NALikely PathogenicMandibuloacral Dysplasia with Type A LipodystrophyMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 07.01.2022

Edit History

  • Asha Deepthi: 07.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.