Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV247751 (NM_016004.5(IFT52):c.878del (p.Leu293fs)) Homo sapiens

Symbol: CV247751
Name: NM_016004.5(IFT52):c.878del (p.Leu293fs)
Condition: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY [RCV000239845]|Short Rib Polydactyly Syndrome [RCV000755168]|Short-rib thoracic dysplasia 16 with or without polydactyly [RCV000239845]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 08/30/2016
Review Status: no assertion criteria provided
Related Genes: IFT52  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only|research
HGVS Name(s): NC_000020.11:g.43624000del
NC_000020.10:g.42252640del
NM_001323579.2:c.227del
NM_001323581.2:c.227del
NM_001323578.2:c.350del
NM_001323580.2:c.350del
NM_001303458.3:c.878del
NM_001303459.3:c.878del
NM_016004.5:c.878del
NG_051913.1:g.38388del
NM_016004.4:c.878del
NM_001303458.1:c.878delT
NP_001310507.1:p.Leu117fs
NP_001310509.1:p.Leu117fs
NP_001290387.1:p.Leu293fs
NP_001290388.1:p.Leu293fs
NP_057088.2:p.Leu293fs
NP_001310508.1:p.Leu76fs
NP_001310510.1:p.Leu76fs
Position
Human AssemblyChrPosition (strand)Source
GRCh382043,624,000 - 43,624,000CLINVAR
GRCh372042,252,640 - 42,252,640CLINVAR
Cytogenetic Map2020q13.12CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541133
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



NHLBI Logo

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