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Variant : CV677251 (NM_138638.5(CFL2):c.353C>G (p.Ala118Gly)) Homo sapiens

Symbol: CV677251
Name: NM_138638.5(CFL2):c.353C>G (p.Ala118Gly)
Condition: Muscle weakness [RCV000850335]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: CFL2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_021914.7:c.353C>G
NG_012740.1:g.6729C>G
NC_000014.9:g.34713095G>C
NC_000014.8:g.35182301G>C
NR_028131.1:n.382C>G
NM_138638.5:c.353C>G
NR_028130.1:n.493C>G
NP_001230574.1:p.Ala101Gly
NP_068733.1:p.Ala118Gly
NP_619579.1:p.Ala118Gly
NM_001243645.1:c.302C>G
LRG_213:g.6729C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381434,713,095 - 34,713,095CLINVAR
GRCh371435,182,301 - 35,182,301CLINVAR
Cytogenetic Map1414q13.1CLINVAR
Trait Synonyms: Muscular weakness



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14978109
Created: 2019-10-08
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.