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Variant : CV15599 (NM_000140.4(FECH):c.580_584del (p.Tyr194fs)) Homo sapiens

Symbol: CV15599
Name: NM_000140.4(FECH):c.580_584del (p.Tyr194fs)
Condition: Erythropoietic protoporphyria [RCV000000590]
Clinical Significance: pathogenic
Last Evaluated: 05/18/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: FECH  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NP_000131.2:p.Tyr194fs
NP_001012533.1:p.Tyr200fs
NG_008175.1:g.25273_25277del
NC_000018.10:g.57566465_57566469del
NM_000140.4:c.580_584del
NM_001012515.3:c.598_602del
NC_000018.9:g.55233697_55233701del
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,566,461 - 57,566,465CLINVAR
GRCh371855,233,693 - 55,233,697CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Trait Synonyms: Erythropoietic Protoporphyria, Autosomal Recessive; PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 1 000 000|<1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8555707
Created: 2014-05-13
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.