Variant (rsID / SNP)

rs774455945

rs774455945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNN4. Location: chromosome 19, position 44,273,179. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNN4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:44273179
Cytoband: 19q13.31
HGVS: NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)
Allele change: Missense_R352H

Associated conditions / phenotypes

Dehydrated hereditary stomatocytosis 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.