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Variant : CV247750 (NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)) Homo sapiens

Symbol: CV247750
Name: NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)
Condition: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY [RCV000240373]|Short Rib Polydactyly Syndrome [RCV000755169]|Short-rib thoracic dysplasia 16 with or without polydactyly [RCV000240373]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 08/30/2016
Review Status: no assertion criteria provided
Related Genes: IFT52  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|missense variant
Evidence: literature only|research
HGVS Name(s): NC_000020.11:g.43613959G>A
NC_000020.10:g.42242599G>A
NP_057088.2:p.Ala199Thr
NG_051913.1:g.28347G>A
NM_001303458.1:c.595G>A
NP_001290387.1:p.Ala199Thr
NM_016004.5:c.595G>A
NM_001323578.2:c.67G>A
NM_001323580.2:c.67G>A
NM_016004.4:c.595G>A
NP_001290388.1:p.Ala199Thr
NM_001323579.2:c.-170G>A
NM_001323581.2:c.-170G>A
NM_001303458.3:c.595G>A
NM_001303459.3:c.595G>A
NP_001310507.1:p.Ala23Thr
NP_001310509.1:p.Ala23Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh382043,613,959 - 43,613,959CLINVAR
GRCh372042,242,599 - 42,242,599CLINVAR
Cytogenetic Map2020q13.12CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541142
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-01-07
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.