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Variant : CV672299 (NM_005560.5(LAMA5):c.2239C>T (p.Arg747Trp)) Homo sapiens

Symbol: CV672299
Name: NM_005560.5(LAMA5):c.2239C>T (p.Arg747Trp)
Condition: Nephrotic syndrome [RCV000845201]
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.2239C>T
NG_050626.1:g.35897C>T
NC_000020.11:g.62336424G>A
NC_000020.10:g.60911480G>A
NM_005560.4:c.2239C>T
NP_005551.3:p.Arg747Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh382062,336,424 - 62,336,424CLINVAR
GRCh372060,911,480 - 60,911,480CLINVAR
Cytogenetic Map2020q13.33CLINVAR
Trait Synonyms: Nephrosis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14746924
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.