NM_001083602.2:c.3749A>G

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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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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 2025. All rights reserved.
© CAGS 2025. All rights reserved.