Variant (rsID / SNP)

rs146177203

rs146177203 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1A. Location: chromosome 12, position 6,464,584. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCNN1AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:6464584
Cytoband: 12p13.31
HGVS: NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys)
Allele change: Missense_R333C

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.