NM_000051.4:c.5558A>T

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HGVS Expressions

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

Associated Genes

Ataxia-Telangiectasia Mutated Gene
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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

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Contributors

  • Asha Deepthi: 01.09.2020

Edit History

  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 01.09.2020
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.