Variant (rsID / SNP)

rs139526942

rs139526942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAGPA. Location: chromosome 16, position 5,078,125. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NAGPAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:5078125
Cytoband: 16p13.3
HGVS: NM_016256.4(NAGPA):c.982C>T (p.Arg328Cys)
Allele change: Missense_R328C

Associated conditions / phenotypes

Stuttering, familial persistent, 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.