NM_000335.4:c.5366A>G

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  2. NM_000335.4:c.5366A>G

HGVS Expressions

  • NG_008934.1:g.103670A>G
  • NM_000335.4:c.5366A>G
  • NP_932173.1:p.Asp1790Gly

Associated Genes

Sodium Channel, Voltage-Gated, Type V, Alpha Subunit
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Genomic Location

chr3:38551003

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

199473317

Clinvar

67989

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
192500.G.1Tunisia1PathogenicLong QT Syndrome 1Benhorin et al. 1998 Group of 23 family members
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Contributors

  • Sayeeda Hana: 04.06.2020

Edit History

  • Sayeeda Hana: 04.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.