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Variant : CV434548 (NM_015836.3(WARS2):c.532G>C (p.Val178Leu) AND NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS) Homo sapiens

Symbol: CV434548
Name: NM_015836.3(WARS2):c.532G>C (p.Val178Leu) AND NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS
Condition: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES [RCV000509074]
Clinical Significance: pathogenic
Last Evaluated: 10/10/2017
Review Status: no assertion criteria provided
Related Genes: WARS2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_015836.3:c.532G>C
NG_050658.1:g.111592G>C
NC_000001.11:g.119034197C>G
NC_000001.10:g.119576820C>G
NP_056651.1:p.Val178Leu
NM_201263.2:c.532G>C
NP_957715.1:p.Val178Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh381119,034,197 - 119,034,197CLINVAR
GRCh371119,576,820 - 119,576,820CLINVAR
Cytogenetic Map11p12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13442628
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-11-12
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.