NM_000088.4:c.2050G>A

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HGVS Expressions

  • NG_007400.1:g.14775G>A
  • NM_000088.4:c.2050G>A
  • NP_000079.2:p.Glu684Lys
  • NC_000017.11:g.50191865C>T

Associated Genes

Collagen, Type I, Alpha-1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

1432430042

Clinvar

1785070

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
120150.1Saudi Arabia2Uncertain SignificanceCOL1A1-related Ehlers-Danlos Syndrome-like Disorder, Autosomal RecessiveAlazami et al, 2016
120150.2Saudi Arabia2Uncertain SignificanceCOL1A1-related Ehlers-Danlos Syndrome-like Disorder, Autosomal RecessiveAlazami et al, 2016
120150.3Saudi Arabia2Likely PathogenicCOL1A1-related Ehlers-Danlos Syndrome-like Disorder, Autosomal RecessiveMonies et al. 2017 Patient's parents are from the same trib...
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Contributors

  • Asha Deepthi: 07.08.2024

Edit History

  • Asha Deepthi: 28.10.2024
  • Asha Deepthi: 03.10.2024
  • Asha Deepthi: 07.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.