NM_182548.4:c.1A>G

HGVS Expressions

  • NG_012184.2:g.5378A>G
  • NM_182548.4:c.1A>G
  • NP_872354.1:p.Met1Val

Associated Genes

LHFP-Like Protein 5
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Genomic Location

chr6:35805671

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

402282

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610265.1.1Palestine2PathogenicDeafness, Autosomal Recessive 67Shahin et al. 2010
610265.1.2Palestine2PathogenicDeafness, Autosomal Recessive 67Shahin et al. 2010 Sister of 610265.1.1
610265.1.3Palestine2PathogenicDeafness, Autosomal Recessive 67Shahin et al. 2010 First cousin of 610265.1.1
610265.1.4Palestine2PathogenicDeafness, Autosomal Recessive 67Shahin et al. 2010 First cousin of 610265.1.1, brother of 6...
610265.1.5Palestine2PathogenicDeafness, Autosomal Recessive 67Shahin et al. 2010 First cousin of 610265.1.1, brother of 6...
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