NM_006359.3:c.1255G>T

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  2. NM_006359.3:c.1255G>T

HGVS Expressions

  • NG_017160.1:g.42160T>G
  • NM_006359.3:c.1255G>T
  • NP_006350.1:p.Val419Phe

Associated Genes

Solute Carrier Family 9, Member 6
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Genomic Location

chrX:136022592

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300243.1Lebanon1Likely PathogenicMental Retardation, X-Linked, Syndromic, Christianson TypeJalkh et al. 2019
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Contributors

  • Pratibha Nair: 14.12.2020

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 14.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.