NM_000321.3:c.1505C>T

HGVS Expressions

  • NG_009009.1:g.82507C>T
  • NM_000321.3:c.1505C>T
  • NP_000312.2:p.Thr502Ile
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Genomic Location

chr13:48381253

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

458129

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.32LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B26' from family 7 in the publi...
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