Variant (rsID / SNP)

rs80358202

rs80358202 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJA8. Location: chromosome 1, position 147,380,823. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GJA8Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:147380823
Cytoband: 1q21.2
HGVS: NM_005267.5(GJA8):c.741T>G (p.Ile247Met)
Allele change: Silent

Associated conditions / phenotypes

Cataract 1 multiple types

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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