Table 5.

Notable UMOD Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted
Protein Change		Comment 1
# of
families		Median age
of ESRD
NM_003361​.4
NP_003352​.2 		c.115G>Ap.Ala39Thr(Later onset of ESRD)
466 yrs 2
c.263G>Ap.Gly88AspCommon pathogenic variant
(Later onset of ESRD)
865.5 yrs 2
c.274T>Gp.Cys92Gly(Early onset of ESRD)
231.5 yrs 2
c.278_289delTCTGCCC
CGAAGinsCCGCCTCCT		p.Val93_Gly97del
insAlaAlaSerCys		Common pathogenic variant; assoc w/less frequent gout (Later onset of ESRD) 3
1148 yrs 2
c.317G>Tp.Cys106PheCommon pathogenic variant (Later onset of ESRD)
1055 yrs 2
c.529_555del27p.His177-Arg185delCommon pathogenic variant
2546 yrs 2
c.533G>Cp.Arg178ProCommon pathogenic variant (Later onset of ESRD)
953 yrs 2
c.744C>Gp.Cys248Trp(Later onset of ESRD)
371 yrs 2

ESRD = end-stage renal disease

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Comments shown in ( )s are possible associations that require further evidence.

2.
3.

From: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD

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