Variant (rsID / SNP)

rs754747376

rs754747376 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1G. Location: chromosome 16, position 23,200,820. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCNN1GUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:23200820
Cytoband: 16p12.2
HGVS: NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala)
Allele change: Missense_G149A

Associated conditions / phenotypes

Autosomal recessive pseudohypoaldosteronism type 1|Liddle syndrome 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.