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Variant : CV612419 (NM_198391.3(FLRT3):c.1642G>C (p.Val548Leu)) Homo sapiens

Symbol: CV612419
Name: NM_198391.3(FLRT3):c.1642G>C (p.Val548Leu)
Condition: Severe Myopia [RCV000785716]
Clinical Significance: uncertain significance
Last Evaluated: 12/17/2018
Review Status: no assertion criteria provided
Related Genes: FLRT3   MACROD2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: research
HGVS Name(s): NG_033913.1:g.16803G>C
NC_000020.11:g.14325865C>G
NM_198391.2:c.1642G>C
NM_198391.3:c.1642G>C
NC_000020.10:g.14306511C>G
NP_938205.1:p.Val548Leu
NM_013281.3:c.1642G>C
NM_001351661.2:c.272-167614C>G
NM_001351663.2:c.272-167614C>G
NM_080676.6:c.272-167614C>G
NG_054905.1:g.335366C>G
NP_037413.1:p.Val548Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh382014,325,865 - 14,325,865CLINVAR
GRCh372014,306,511 - 14,306,511CLINVAR
Cytogenetic Map2020p12.1CLINVAR
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: 14696169
Created: 2019-07-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.