NM_000274.4:c.889G>T

HGVS Expressions

  • NG_008861.1:g.21013G>T
  • NM_000274.4:c.889G>T
  • NP_001309899.1:p.Gly297Cys
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Genomic Location

chr10:124402938

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
258870.G.1Sudan8Uncertain SignificanceGyrate Atrophy of Choroid and RetinaPatel et al, 2018 4 family members
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