NM_000251.3:c.965G>A

HGVS Expressions

  • NG_007110.2:g.18195G>A
  • NM_000251.3:c.965G>A
  • NP_000242.1:p.Gly322Asp

Associated Genes

Muts Homolog 2
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Genomic Location

chr2:47416318

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

4987188

Clinvar

1762

Epidemiology in the Arab World

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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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