NM_000051.4:c.5558A>T

HGVS Expressions

  • NG_009830.1:g.86905A>T
  • NM_000051.4:c.5558A>T
  • NP_000042.3:p.Asp1853Val
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Genomic Location

chr11:108304736

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

1801673

Clinvar

133623

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.46LebanonAssociationBreast CancerJalkh et al, 2017 Patient 'B42' from family 19 in the publ...
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