NM_004560.3:c.814C>T

HGVS Expressions

  • NG_008089.1:g.221918C>T
  • NM_004560.3:c.814C>T
  • NP_004551.2:p.Arg272Cys
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Genomic Location

Chr9:91733245

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268310.1.1Lebanon2NARobinow Syndrome, Autosomal RecessiveMehawej et al., 2012 Patient 1
268310.1.2Lebanon2NARobinow Syndrome, Autosomal RecessiveMehawej et al., 2012 Patient 2, sister of 268310.1.1
268310.1.3Lebanon1NAMehawej et al., 2012 Father of 268310.1.1 and 268310.1.2
268310.1.4Lebanon1NAMehawej et al., 2012 Mother of 268310.1.1 and 268310.1.2
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