Variant (rsID / SNP)

rs80358210

rs80358210 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB4. Location: chromosome 1, position 35,227,108. Clinical significance in the table: Pathogenic.

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Reference-table entries

GJB4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:35227108
Cytoband: 1p34.3
HGVS: NM_153212.3(GJB4):c.253A>C (p.Thr85Pro)
Allele change: Missense_T85P

Associated conditions / phenotypes

Erythrokeratodermia variabilis et progressiva 2

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.