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Variant : CV612422 (NM_005560.5(LAMA5):c.6221C>T (p.Pro2074Leu)) Homo sapiens

Symbol: CV612422
Name: NM_005560.5(LAMA5):c.6221C>T (p.Pro2074Leu)
Condition: Severe Myopia [RCV000785728]
Clinical Significance: uncertain significance
Last Evaluated: 12/17/2018
Review Status: no assertion criteria provided
Related Genes: LAMA5  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NM_005560.4:c.6221C>T
NP_005551.3:p.Pro2074Leu
NC_000020.10:g.60897450G>A
NC_000020.11:g.62322394G>A
NM_005560.5:c.6221C>T
NG_050626.1:g.49927C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382062,322,394 - 62,322,394CLINVAR
GRCh372060,897,450 - 60,897,450CLINVAR
Cytogenetic Map2020q13.33CLINVAR
Trait Synonyms: High myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14696181
Created: 2019-07-09
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.