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Variant : CV264886 (NM_001165960.1(ALOXE3):c.2285C>T (p.Pro762Leu)) Homo sapiens

Symbol: CV264886
Name: NM_001165960.1(ALOXE3):c.2285C>T (p.Pro762Leu)
Condition: Autosomal recessive congenital ichthyosis 3 [RCV000032747]|Autosomal recessive congenital ichthyosis [RCV000615069]|not provided [RCV000295913]
Clinical Significance: pathogenic
Last Evaluated: 09/20/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALOXE3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_021628.2:c.1889C>T
NM_001165960.1:c.2285C>T
NG_015807.1:g.20527C>T
NC_000017.11:g.8103390G>A
NC_000017.10:g.8006708G>A
NP_067641.2:p.Pro630Leu
NP_001159432.1:p.Pro762Leu
Q9BYJ1:p.Pro630Leu
NM_001369446.1:c.1886C>T
NP_001356375.1:p.Pro629Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,103,390 - 8,103,390CLINVAR
GRCh37178,006,708 - 8,006,708CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: ICHTHYOSIS, LAMELLAR, 5



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11579111
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-10-15
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.