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

Variant : CV590923 (NM_005560.5(LAMA5):c.1249A>T (p.Asn417Tyr)) Homo sapiens

Symbol: CV590923
Name: NM_005560.5(LAMA5):c.1249A>T (p.Asn417Tyr)
Condition: Short stature [RCV000736127]
Clinical Significance: uncertain significance
Last Evaluated: 11/18/2001
Review Status: no assertion criteria provided
Related Genes: LAMA5  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: case-control
HGVS Name(s): NG_050626.1:g.25782A>T
NM_005560.4:c.1249A>T
NP_005551.3:p.Asn417Tyr
NC_000020.10:g.60921595T>A
NC_000020.11:g.62346539T>A
NM_005560.5:c.1249A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382062,346,539 - 62,346,539CLINVAR
GRCh372060,921,595 - 60,921,595CLINVAR
Cytogenetic Map2020q13.33CLINVAR
Trait Synonyms: Decreased body height; Height less than 3rd percentile; Small stature; Stature below 3rd percentile



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14349932
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE



NHLBI Logo

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