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Variant : CV590569 (Single allele) Homo sapiens

Symbol: CV590569
Name: Single allele
Condition: Hypoparathyroidism-deafness-renal disease syndrome [RCV000735901]
Clinical Significance: pathogenic
Last Evaluated: 12/17/2018
Review Status: criteria provided, single submitter
Related Genes: ACBD7   AKR1C1   AKR1C2   AKR1C3   AKR1C4   AKR1E2   ANKRD16   ARL5B   ASB13   ATP5F1C   BEND7   C1QL3   CACNB2   CALML3   CALML3-AS1   CALML5   CAMK1D   CCDC3   CDC123   CDNF   CELF2   CUBN   DCLRE1C   DHTKD1   ECHDC3   FAM107B   FAM171A1   FBH1   FRMD4A   GATA3   GDI2   HACD1   HSPA14   IL15RA   IL2RA   ITGA8   ITIH2   ITIH5   KIN   MCM10   MEIG1   MINDY3   NET1   NMT2   NSUN6   NUDT5   OLAH   OPTN   PFKFB3   PHYH   PRKCQ   PROSER2   PRPF18   PTER   RBM17   RPP38   RPP38-DT   RSU1   SEC61A2   SEPHS1   SFMBT2   SLC39A12   ST8SIA6   STAM   SUV39H2   TAF3   TASOR2   TRDMT1   TUBAL3   UCMA   UCN3   UPF2   USP6NL   VIM  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh37104,689,760 - 19,120,882CLINVAR
Cytogenetic Map1010p15.1-12.31CLINVAR
Trait Synonyms: Barakat syndrome; HDR syndrome; Hypoparathyroidism, sensorineural deafness, and renal dysplasia; HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME; Nephrosis, nerve deafness, and hypoparathyroidism



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14350360
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.