NM_139278.4:c.422T>A

HGVS Expressions

  • NM_139278.4:c.422T>A
  • NP_644807.1:p.Leu141His
  • NC_000008.11:g.22154142A>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1699930

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
620007.5.1Iraq2NALikely PathogenicIntellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal DefectsMarafi et al. 2022b Index patient from 'family 6' in the pub...
620007.5.2Iraq2NALikely PathogenicIntellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal DefectsMarafi et al. 2022b Brother of 620007.5.1
620007.5.3Iraq2NALikely PathogenicIntellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal DefectsMarafi et al. 2022b Brother of 620007.5.1
620007.5.GIraq5NAMarafi et al. 2022b Relatives of 620007.5.1 (parents + three...
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