NM_001257966.1:c.1842delT

HGVS Expressions

  • NG_008483.2:g.225209delT
  • NM_001257966.1:c.1842delT
  • NP_001244895.1:p.Gly614Glyfs*6
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Genomic Location

chr1:197421670

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613835.G.4PalestinePathogenicLeber Congenital Amaurosis 8Beryozkin et al. 2013 Group consisting of affected members fro...
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