NM_000112.3:c.1361A>C

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  2. NM_000112.3:c.1361A>C

HGVS Expressions

  • NG_007147.2:g.22072A>C
  • NM_000112.3:c.1361A>C
  • NP_000103.2:p.Gln454Pro

Associated Genes

Solute Carrier Family 26 (Sulfate Transporter), Member 2
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Genomic Location

chr5:149980954

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104893921

Clinvar

4096

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222600.1.1Lebanon2PathogenicDiastrophic DysplasiaMégarbané et al., 1999; Mégarbané et al. 2002e Similarly affected sister
222600.1.2Lebanon1PathogenicMégarbané et al., 1999 Mother of 222600.1.1
222600.1.3Lebanon1PathogenicMégarbané et al., 1999 Fatther of 222600.1.1
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Contributors

  • Pratibha Nair: 27.02.2019

Edit History

  • Pratibha Nair: 27.02.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.