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Variant : CV38629 (NM_000791.3(DHFR):c.458A>T (p.Asp153Val)) Homo sapiens

Symbol: CV38629
Name: NM_000791.3(DHFR):c.458A>T (p.Asp153Val)
Condition: Megaloblastic anemia due to dihydrofolate reductase deficiency [RCV000022525]|not provided [RCV000114932]
Clinical Significance: pathogenic
Last Evaluated: 03/30/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: DHFR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: missense|non-coding transcript variant|missense variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NM_000791.3:c.458A>T
NG_023304.1:g.26078A>T
NC_000005.10:g.80633904T>A
NC_000005.9:g.79929723T>A
NP_000782.1:p.Asp153Val
NM_001290357.1:c.369+3979A>T
NR_110936.1:n.773A>T
P00374:p.Asp153Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38580,633,904 - 80,633,904CLINVAR
GRCh37579,929,723 - 79,929,723CLINVAR
Cytogenetic Map55q14.1CLINVAR
Trait Synonyms: DHFR DEFICIENCY
Age Of Onset: childhood
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8601988
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-08-06
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.