ClinVar Miner

Submissions for variant NM_213653.4(HJV):c.697del (p.Gln233fs)

dbSNP: rs1559279177
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Grupo de Pesquisa Clinica e Molecular em Endocrinologia e Metabologia RCV000722103 SCV000853073 pathogenic Hemochromatosis type 2A 2018-11-09 no assertion criteria provided research Patient carrier of the mutation c.697delC in homozygosis in the HJV gene had diabetes, heart failure, hypogonadism and secondary hypothyroidism. This single nucleotide deletion occurred at codon 233 (exon 4) resulting in a frameshift leading to a premature stop codon at position 245.

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