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Variant : CV15592 (NM_000140.4(FECH):c.1137+3A>G) Homo sapiens

Symbol: CV15592
Name: NM_000140.4(FECH):c.1137+3A>G
Condition: Erythropoietic protoporphyria [RCV000000583]
Clinical Significance: pathogenic
Last Evaluated: 05/18/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: FECH  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Nucleotide Change: ivs10ds, a-g, +3
Evidence: literature only
HGVS Name(s): NG_008175.1:g.40426A>G
NC_000018.10:g.57551312T>C
NC_000018.9:g.55218544T>C
NM_000140.4:c.1137+3A>G
NM_001012515.3:c.1155+3A>G
NM_000140.3:c.1137+3A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,551,312 - 57,551,312CLINVAR
GRCh371855,218,544 - 55,218,544CLINVAR
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: 8555701
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.