Variant (rsID / SNP)

rs80358212

rs80358212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB4. Location: chromosome 1, position 35,226,920. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GJB4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:35226920
Cytoband: 1p34.3
HGVS: NM_153212.3(GJB4):c.65G>A (p.Arg22His)
Allele change: Missense_R22H

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.