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Variant : CV256682 (NM_000140.4(FECH):c.921A>G (p.Pro307=)) Homo sapiens

Symbol: CV256682
Name: NM_000140.4(FECH):c.921A>G (p.Pro307=)
Condition: Erythropoietic protoporphyria [RCV000271830]|not specified [RCV000243889]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: FECH  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_008175.1:g.37322A>G
NC_000018.10:g.57554416T>C
NC_000018.9:g.55221648T>C
NP_000131.2:p.Pro307=
NP_001012533.1:p.Pro313=
NM_000140.4:c.921A>G
NM_001012515.3:c.939A>G
NM_000140.3:c.921A>G
NM_001012515.2:c.939A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,554,416 - 57,554,416CLINVAR
GRCh371855,221,648 - 55,221,648CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant; Erythropoietic Protoporphyria, Autosomal Recessive; PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11544507
Created: 2016-10-11
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.