NM_000059.4:c.5490C>T

HGVS Expressions

  • NG_012772.3:g.29366C>T
  • NM_000059.4:c.5490C>T
  • NP_000050.2:p.Ser1830=

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32339845

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

184431

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.18LebanonLikely BenignBreast CancerJalkh et al, 2012
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