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Variant : CV347444 (NM_000140.4(FECH):c.*4445G>A) Homo sapiens

Symbol: CV347444
Name: NM_000140.4(FECH):c.*4445G>A
Condition: Erythropoietic protoporphyria [RCV000300942]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: FECH  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_008175.1:g.45471G>A
NC_000018.10:g.57546267C>T
NC_000018.9:g.55213499C>T
NM_000140.4:c.*4445G>A
NM_001012515.3:c.*4445G>A
NM_000140.3:c.*4445G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,546,267 - 57,546,267CLINVAR
GRCh371855,213,499 - 55,213,499CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Trait Synonyms: Erythropoietic Protoporphyria, Autosomal Recessive; PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11628378
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.