Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs146378222

GJB4

rs146378222 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB4. Location: chromosome 1, position 35,226,964. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GJB4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:35226964
Cytoband
1p34.3
HGVS
NM_153212.3(GJB4):c.109G>A (p.Val37Met)
Allele change
Missense_V37M

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A

Public references

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