NM_032444.4:c.421G>T

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  2. NM_032444.4:c.421G>T

HGVS Expressions

  • NG_028123.1:g.8041G>T
  • NM_032444.4:c.421G>T
  • NP_115820.2:p.Gly141Trp

Associated Genes

SLX4 Structure-Specific Endonuclease Subunit
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Genomic Location

chr16:3608544

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137976282

Clinvar

241689

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.40LebanonPathogenicBreast CancerJalkh et al, 2017 Patient 'B36' from family 13 in the publ...
114480.48LebanonPathogenicBreast CancerJalkh et al, 2017 Patient 'B44' from family 21 in the publ...
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Contributors

  • Asha Deepthi: 07.09.2020

Edit History

  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 07.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.