NM_003482.4:c.8311C>T

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  2. NM_003482.4:c.8311C>T

HGVS Expressions

  • NG_027827.1:g.21048C>T
  • NM_003482.4:c.8311C>T
  • NP_003473.3:p.Arg2771Ter
  • NC_000012.12:g.49039277G>A

Associated Genes

Lysine-Specific Methyltransferase 2D
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1251778848

Clinvar

503723

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
147920.8Saudi Arabia1Likely PathogenicKabuki Syndrome 1Patel et al. 2018; Patel and Alkuraya. 2015 de novo mutation
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Contributors

  • Pratibha Nair: 28.09.2023

Edit History

  • Pratibha Nair: 28.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.