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Variant : CV590568 (Single allele) Homo sapiens

Symbol: CV590568
Name: Single allele
Condition: Trichorhinophalangeal dysplasia type I [RCV000735900]
Clinical Significance: pathogenic
Last Evaluated: 12/17/2018
Review Status: criteria provided, single submitter
Related Genes: AARD   ANXA13   ATAD2   C8orf76   CCN3   COL14A1   COLEC10   DEPTOR   DERL1   DSCC1   EIF3H   ENPP2   EXT1   FAM83A   FAM91A1   FBXO32   FER1L6   HAS2   HAS2-AS1   KLHL38   LINC00536   LRATD2   MAL2   MED30   MRPL13   MTBP   MTSS1   MYC   NDUFB9   NSMCE2   PCAT1   POU5F1B   PVT1   RAD21   RNF139   SAMD12   SLC30A8   SNTB1   SQLE   TAF2   TATDN1   TBC1D31   TMEM65   TNFRSF11B   TRIB1   TRMT12   TRPS1   UTP23   WASHC5   WDYHV1   ZHX1   ZHX1-C8orf76   ZHX2   ZNF572  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh378114,508,086 - 129,040,004CLINVAR
Cytogenetic Map88q23.3-24.21CLINVAR
Trait Synonyms: Trichorhinophalangeal Syndrome Type I; TRPS I



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14350352
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-03-17
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.