Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs34988750

GJB2

rs34988750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,243. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GJB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:20763243
Cytoband
13q12.11
HGVS
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
Allele change
Missense_G160S

Associated conditions / phenotypes

Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Nonsyndromic Deafness|Autosomal recessive nonsyndromic hearing loss 1A|Nonsyndromic genetic hearing loss|Autosomal dominant keratitis-ichthyosis-hearing loss syndrome

Public references

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