INVS Chromosome 9

Inversin
141 variants 141 Health Risk

Upload your DNA to see your personal genotypes for variants in INVS.

What This Gene Does
This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Inversin complex subunits"
Locus Type
gene with protein product
Location
9q31.1
Ensembl
ENSG00000119509
Associated Conditions (7)
Nephronophthisis
INVS-related disorder
Infantile nephronophthisis
Kidney disorder
Inborn genetic diseases
Kidney failure
Malignant tumor of urinary bladder
Key Variants
RS1052867
Conflicting classifications of pathogenicity
Nephronophthisis, INVS-related disorder, Nephronophthisis
Health Risk
RS112573051
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
Health Risk
RS114056499
Conflicting classifications of pathogenicity
Nephronophthisis, INVS-related disorder, Nephronophthisis
Health Risk
RS114645869
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, Kidney disorder
Health Risk
RS114912725
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, INVS-related disorder
Health Risk
RS115042730
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, INVS-related disorder
Health Risk
RS115324411
Conflicting classifications of pathogenicity
Nephronophthisis, Inborn genetic diseases, Nephronophthisis
Health Risk
RS115598824
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, Kidney failure
Health Risk
RS115754570
Conflicting classifications of pathogenicity
Nephronophthisis, Inborn genetic diseases, INVS-related disorder
Health Risk
RS115937161
Conflicting classifications of pathogenicity
Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis
Health Risk
RS116314059
Conflicting classifications of pathogenicity
Nephronophthisis, INVS-related disorder, Nephronophthisis
Health Risk
RS116606949
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
Health Risk
All Variants (141)
RSID Category Clinical Significance Conditions
RS2490118090 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490118392 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490134421 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490877865 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2491192423 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2491192429 Health Risk Pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS2491192475 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2491202052 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2491244807 Health Risk Pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS2491257149 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS267607185 Health Risk Pathogenic Infantile nephronophthisis, Nephronophthisis, INVS-related disorder
RS375416014 Health Risk Pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS376879175 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS753348470 Health Risk Pathogenic Infantile nephronophthisis, Nephronophthisis, INVS-related disorder
RS755549444 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS757019335 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS763565647 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS764384987 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS765201028 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS768677542 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS769739938 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS772665481 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS772917131 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS778745264 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS878855332 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS886063266 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1166667492 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS121964994 Health Risk Pathogenic/Likely pathogenic Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis
RS1322951938 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS1329661241 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS1369878554 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS1564177022 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS200844390 Health Risk Pathogenic/Likely pathogenic Infantile nephronophthisis, Nephronophthisis, INVS-related disorder
RS2490115316 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS374520570 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS752609119 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS755288504 Health Risk Pathogenic/Likely pathogenic Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis
RS773049314 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, INVS-related disorder, Infantile nephronophthisis
RS777723411 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS779545419 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS935629850 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
« Prev 1 2 3
Sign Up to Analyze Your DNA Log In