NM_001083602.2:c.3749A>G

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  2. NM_001083602.2:c.3749A>G

HGVS Expressions

  • NG_007664.1:g.74657A>G
  • NM_001083602.2:c.3749A>G
  • NP_001077071.1:p.Tyr1250Cys

Associated Genes

Patched 1
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Genomic Location

chr9:95447309

Clinvar Clinical Significance

Benign, Likely Benign, Likely Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

147067171

Clinvar

132723

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.37LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B33' from family 10 in the publ...
114480.42LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B38' from family 15 in the publ...
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Contributors

  • Asha Deepthi: 08.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 08.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.