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Variant : CV432224 (NM_005560.5(LAMA5):c.7114G>A (p.Asp2372Asn)) Homo sapiens

Symbol: CV432224
Name: NM_005560.5(LAMA5):c.7114G>A (p.Asp2372Asn)
Condition: Polymicrogyria [RCV000656108]|not provided [RCV000954193]
Clinical Significance: benign|uncertain significance
Last Evaluated: 09/13/2018
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.Asp2372Asn
NC_000020.11:g.62318579C>T
NG_050626.1:g.53742G>A
NC_000020.10:g.60893635C>T
NM_005560.5:c.7114G>A
NM_005560.4:c.7114G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382062,318,579 - 62,318,579CLINVAR
GRCh372060,893,635 - 60,893,635CLINVAR
Cytogenetic Map2020q13.33CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13612855
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.