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Variant : CV432223 (NM_005560.5(LAMA5):c.10726G>A (p.Glu3576Lys)) Homo sapiens

Symbol: CV432223
Name: NM_005560.5(LAMA5):c.10726G>A (p.Glu3576Lys)
Condition: Polymicrogyria [RCV000656107]|not provided [RCV000949857]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 04/24/2018
Review Status: criteria provided, single submitter
Related Genes: LAMA5  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|research
HGVS Name(s): NP_005551.3:p.Glu3576Lys
NC_000020.11:g.62310186C>T
NG_050626.1:g.62135G>A
NC_000020.10:g.60885242C>T
NM_005560.5:c.10726G>A
NG_050661.1:g.13131C>T
NM_005560.4:c.10726G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382062,310,186 - 62,310,186CLINVAR
GRCh372060,885,242 - 60,885,242CLINVAR
Cytogenetic Map2020q13.33CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13612853
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-10-15
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.