NM_031885.4:c.416G>T

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  2. NM_031885.4:c.416G>T

HGVS Expressions

  • NG_009312.1:g.14070G>T
  • NM_031885.4:c.416G>T
  • NP_114091.3:p.Gly139Val

Associated Genes

BBS2 Gene
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Genomic Location

chr16:56511214

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908181

Clinvar

4584

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615981.1.1Lebanon2PathogenicBardet-Biedl Syndrome 2Laurier et al, 2006; Muller et al. 2010 She belongs to the same large consanguin...
615981.1.2Lebanon2PathogenicBardet-Biedl Syndrome 2Laurier et al, 2006; Muller et al. 2010 Sister of 615981.1.1
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Contributors

  • Sayeeda Hana: 10.04.2020

Edit History

  • Sayeeda Hana: 10.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.