NM_000465.4:c.253G>T

HGVS Expressions

  • NG_012047.2:g.22297G>T
  • NM_000465.4:c.253G>T
  • NP_000456.2:p.Val85Leu
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Genomic Location

chr2:214792408

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

142450

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.53LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B49' from family 24 in the publ...
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