NM_018368.4:c.562+1G>A

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  2. NM_018368.4:c.562+1G>A

HGVS Expressions

  • NG_016012.2:g.129829G>A
  • NM_018368.4:c.562+1G>A
  • NP_060838.3:p.?
  • NC_000006.12:g.69741788C>T

Associated Genes

LMBR1 Domain-Containing Protein 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

372279393

Clinvar

1471643

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612625.G.2Qatar50.009PathogenicDevadoss Gandhi et al. 2024 5 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 19.12.2024

Edit History

  • Sayeeda Hana: 19.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.