NM_001854.4:c.1945-1G>C

HGVS Expressions

  • NG_008033.2:g.110228G>C
  • NM_001854.4:c.1945-1G>C
  • NC_000001.11:g.103003269C>G
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604841.1Saudi Arabia1NALikely PathogenicStickler Syndrome, Type IIMaddirevula et al. 2018 De novo mutation
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