NM_017777.4:c.1048C>T

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  2. NM_017777.4:c.1048C>T

HGVS Expressions

  • NG_013032.1:g.16046C>T
  • NM_017777.4:c.1048C>T
  • NP_060247.2:p.Gln350Ter

Associated Genes

MKS1 Gene
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Genomic Location

chr17:58208560

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

386834041

Clinvar

56614

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249000.6.1Palestine2PathogenicMeckel Syndrome, Type 1Khaddour et al. 2007
249000.6.2Palestine2PathogenicMeckel Syndrome, Type 1Khaddour et al. 2007 Sibling of 249000.6.1
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Contributors

  • Sayeeda Hana: 16.09.2020

Edit History

  • Sayeeda Hana: 16.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.