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Variant : CV672298 (NM_005560.5(LAMA5):c.3002A>G (p.Glu1001Gly)) Homo sapiens

Symbol: CV672298
Name: NM_005560.5(LAMA5):c.3002A>G (p.Glu1001Gly)
Condition: Nephrotic syndrome [RCV000845202]
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.3002A>G
NG_050626.1:g.38738A>G
NC_000020.11:g.62333583T>C
NC_000020.10:g.60908639T>C
NM_005560.4:c.3002A>G
NP_005551.3:p.Glu1001Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh382062,333,583 - 62,333,583CLINVAR
GRCh372060,908,639 - 60,908,639CLINVAR
Cytogenetic Map2020q13.33CLINVAR
Trait Synonyms: Nephrosis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14746925
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-10-20
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.