RS730880338 GJB2
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What This Variant Does
"c.269dupT (p.Val91Serfs) ClinVar pathogenic/likely pathogenic for deafness, DFNB1A
Associated Conditions
Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Hearing loss
Nonsyndromic genetic hearing loss
Nonsyndromic Deafness
7 conditions
Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Hearing loss
Nonsyndromic genetic hearing loss
Nonsyndromic Deafness
7 conditions
Other Variants in GJB2