NM_000051.4:c.2119T>C

HGVS Expressions

  • NG_009830.1:g.36203T>C
  • NM_000051.4:c.2119T>C
  • NP_000042.3:p.Ser707Pro
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Genomic Location

chr11:108254034

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

4986761

Clinvar

128454

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.35LebanonAssociationBreast CancerJalkh et al, 2017 Patient 'B31' from family 9 in the publi...
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