NM_021870.2:c.400C>T

HGVS Expressions

  • NG_008834.1:g.5945C>T
  • NM_021870.2:c.400C>T
  • NP_068656.2:p.Arg134Ter
  • NC_000004.12:g.154611806G>A
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
202400.1.1Lebanon2PathogenicAfibrinogenemia, CongenitalNeerman-Arbez et al., 2004
202400.1.2Lebanon2PathogenicAfibrinogenemia, CongenitalNeerman-Arbez et al., 2004 Brother of 202400.1.1
202400.1.3Lebanon1PathogenicNeerman-Arbez et al., 2004 Mother of 202400.1.1 and 202400.1.2
202400.1.4Lebanon1PathogenicNeerman-Arbez et al., 2004 Father of 202400.1.1 and 202400.1.2
202400.2.1Lebanon2PathogenicAfibrinogenemia, CongenitalNeerman-Arbez et al., 2004
202400.2.2Lebanon1PathogenicNeerman-Arbez et al., 2004 Mother of 202400.2.1
202400.3.1Lebanon2PathogenicAfibrinogenemia, CongenitalNeerman-Arbez et al., 2004
202400.3.2Lebanon1PathogenicNeerman-Arbez et al., 2004 Mother of 202400.3.1
202400.3.3Lebanon1PathogenicNeerman-Arbez et al., 2004 Father of 202400.3.1
202400.3.4Lebanon2PathogenicAfibrinogenemia, CongenitalNeerman-Arbez et al., 2004 Second cousin of 202400.3.1
202400.3.5Lebanon1PathogenicNeerman-Arbez et al., 2004 Mother of 202400.3.4
202400.3.6Lebanon1PathogenicNeerman-Arbez et al., 2004 Father of 202400.3.3
202400.4Lebanon2PathogenicAfibrinogenemia, CongenitalNeerman-Arbez et al., 2004
202400.5.1Lebanon2PathogenicAfibrinogenemia, CongenitalNeerman-Arbez et al., 2004
202400.5.2Lebanon1PathogenicNeerman-Arbez et al., 2004 Mother of 202400.5.1
202400.6.1Lebanon2PathogenicAfibrinogenemia, CongenitalNeerman-Arbez et al., 2004
202400.6.2Lebanon2PathogenicAfibrinogenemia, CongenitalNeerman-Arbez et al., 2004 Sibling of 202400.6.1 & 202400.6.3
202400.6.3Lebanon2PathogenicAfibrinogenemia, CongenitalNeerman-Arbez et al., 2004 Sibling of 202400.6.1 & 202400.6.2
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