NM_000288.4:c.875T>A

HGVS Expressions

  • NG_008462.1:g.80634T>A
  • NM_000288.4:c.875T>A
  • NP_000279.1:p.Leu292Ter
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Genomic Location

chr6:136898213

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1805137

Clinvar

7780

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
215100.1Lebanon2PathogenicRhizomelic Chondrodysplasia Punctata, Type 1Nair et al. 2018
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