NM_198525.3:c.3331C>T

HGVS Expressions

  • NG_030338.1:g.30891C>T
  • NM_198525.3:c.3331C>T
  • NP_940927.2:p.Arg1111Ter
  • NC_000015.10:g.89629561G>A

Associated Genes

Kinesin Family Member 7
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

217670

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
200990.1.1Saudi Arabia2NALikely PathogenicAcrocallosal SyndromeMaddirevula et al. 2018 Patient has Joubert Syndrome 12, phenoty...
200990.1.2Saudi Arabia2NALikely PathogenicAcrocallosal SyndromeMaddirevula et al. 2018 Relative of 200990.1.1; this patient has...
200990.2Saudi Arabia2NALikely PathogenicAcrocallosal SyndromeMaddirevula et al. 2018; Shaheen et al. 2017 Subject has two similarly affected broth...
200990.3Saudi Arabia2NALikely PathogenicAcrocallosal SyndromeMaddirevula et al. 2018
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