NM_000249.4:c.655A>G

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  2. NM_000249.4:c.655A>G

HGVS Expressions

  • NG_007109.2:g.23728A>G
  • NM_000249.4:c.655A>G
  • NP_000240.1:p.Ile219Val

Associated Genes

DNA Mismatch Repair Protein MLH1
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Genomic Location

chr3:37012077

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1799977

Clinvar

36557

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.31LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B25' from family 6 in the publi...
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Contributors

  • Asha Deepthi: 13.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 30.09.2020
  • Asha Deepthi: 13.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.