Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

NPHP4

nephrocystin 4

Chromosome
1
Cytoband
1p36.31
Variants (rsID)
52

NPHP4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.31). Its official name is “nephrocystin 4”. The reference table lists 52 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

25 reference-table entries with clinical significance.

  • rs113445782Benignsingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4
  • rs113902159Benignsingle nucleotide variantNephronophthisis 4|Senior-Loken syndrome 4|Nephronophthisis
  • rs115526767Benignsingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4
  • rs115910810Benignsingle nucleotide variantSenior-Loken syndrome 4|Nephronophthisis|Nephronophthisis 4
  • rs12084067Benignsingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4
  • rs12142270Benignsingle nucleotide variantSenior-Loken syndrome 4|Nephronophthisis|Nephronophthisis 4
  • rs139767853Benignsingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4
  • rs145255635Benignsingle nucleotide variantSenior-Loken syndrome 4|Nephronophthisis|Nephronophthisis 4
  • rs146078470Benignsingle nucleotide variantSenior-Loken syndrome 4|Nephronophthisis|Nephronophthisis 4
  • rs148424288Benignsingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4
  • rs17472401Benignsingle nucleotide variantNephronophthisis 4|Nephronophthisis
  • rs191602135Benignsingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4
  • rs41280800Benignsingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4
  • rs571655Benignsingle nucleotide variantNephronophthisis|Nephronophthisis 4|Senior-Loken syndrome 4
  • rs139203183Conflicting interpretationssingle nucleotide variantNephronophthisis 4|Senior-Loken syndrome 4|Nephronophthisis
  • rs190940697Conflicting interpretationssingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4
  • rs199583130Conflicting interpretationssingle nucleotide variantNephronophthisis|Congenital anomaly of kidney and urinary tract
  • rs35575973Conflicting interpretationssingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4
  • rs35641267Conflicting interpretationssingle nucleotide variantNephronophthisis|Nephronophthisis 4|Senior-Loken syndrome 4
  • rs374146357Conflicting interpretationssingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4|Nephronophthisis 4
  • rs375237454Conflicting interpretationssingle nucleotide variantNephronophthisis
  • rs61739637Conflicting interpretationssingle nucleotide variantNephronophthisis
  • rs139022622Likely benignsingle nucleotide variantNephronophthisis|Senior-Loken syndrome 4
  • rs200711763Uncertain significancesingle nucleotide variantNephronophthisis
  • rs373369949Uncertain significancesingle nucleotide variantNephronophthisis

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.