Variant (rsID / SNP)

rs139767853

rs139767853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP4. Location: chromosome 1, position 5,927,943. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPHP4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:5927943
Cytoband: 1p36.31
HGVS: NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
Allele change: Silent

Associated conditions / phenotypes

Nephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4

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.