NM_014844.5:c.3418T>G

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HGVS Expressions

  • NG_042851.1:g.94494T>G
  • NM_014844.5:c.3418T>G
  • NP_055659.2:p.Trp1140Gly
  • NC_000014.9:g.102452405T>G

Associated Genes

Tectonin Beta-Propeller Repeat-Containing Protein 2
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1890167079

Clinvar

972711

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615031.1.1United Arab Emirates2NALikely PathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental DelayNeuser et al. 2021 Proband
615031.1.2United Arab Emirates2NALikely PathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental DelayNeuser et al. 2021 Sister of 615031.1.1
615031.1.GUnited Arab Emirates4NANeuser et al. 2021 Parents+2 silings of 615031.1.1 and 6150...
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Contributors

  • Asha Deepthi: 27.05.2022

Edit History

  • Asha Deepthi: 27.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.