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Variant (rsID / SNP)

rs398124237

GJB6

rs398124237 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB6. Location: chromosome 13, position 20,796,930. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GJB6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
Duplication
Chromosome / position
13:20796930
Cytoband
13q12.11
HGVS
NM_001110219.3(GJB6):c.689dup (p.Asn230fs)

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal dominant nonsyndromic hearing loss 3B|Hidrotic ectodermal dysplasia syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.