Variant (rsID / SNP)
rs34320609
rs34320609 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,339,295. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
NPHS1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:36339295
- Cytoband
- 19q13.12
- HGVS
- NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro)
- Allele change
- Missense_L392P
Associated conditions / phenotypes
Congenital nephrotic syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.