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

Variant : CV672297 (NM_005560.5(LAMA5):c.8842G>A (p.Gly2948Ser)) Homo sapiens

Symbol: CV672297
Name: NM_005560.5(LAMA5):c.8842G>A (p.Gly2948Ser)
Condition: Nephrotic syndrome [RCV000845203]
Clinical Significance: uncertain significance
Last Evaluated: 03/09/2018
Review Status: no assertion criteria provided
Related Genes: LAMA5  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_005560.5:c.8842G>A
NG_050626.1:g.59120G>A
NC_000020.11:g.62313201C>T
NC_000020.10:g.60888257C>T
NM_005560.4:c.8842G>A
NP_005551.3:p.Gly2948Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh382062,313,201 - 62,313,201CLINVAR
GRCh372060,888,257 - 60,888,257CLINVAR
Cytogenetic Map2020q13.33CLINVAR
Trait Synonyms: Nephrosis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14746926
Created: 2019-09-06
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.