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Variant : CV443403 (NM_015560.2(OPA1):c.871G>C (p.Val291Leu)) Homo sapiens

Symbol: CV443403
Name: NM_015560.2(OPA1):c.871G>C (p.Val291Leu)
Condition: Dominant hereditary optic atrophy [RCV000709838]|not provided [RCV000519528]
Clinical Significance: likely pathogenic|not provided
Last Evaluated: 08/14/2017
Review Status: criteria provided, single submitter|no assertion provided
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|phenotyping only
HGVS Name(s): NM_130831.3:c.763G>C
NM_130833.2:c.874G>C
NM_130834.3:c.925G>C
NP_001341593.1:p.Val167Leu
NP_001341592.1:p.Val168Leu
NP_570844.1:p.Val255Leu
NP_570845.1:p.Val273Leu
NM_015560.2:c.871G>C
NM_130837.2:c.1036G>C
NP_056375.2:p.Val291Leu
LRG_337t2:c.1036G>C
LRG_337:g.49809G>C
NG_011605.1:g.49809G>C
NC_000003.12:g.193637952G>C
NC_000003.11:g.193355741G>C
LRG_337p2:p.Val346Leu
LRG_337t1:c.871G>C
LRG_337p1:p.Val291Leu
NP_570850.2:p.Val346Leu
NM_001354664.2:c.499G>C
NM_001354663.2:c.502G>C
NM_130832.3:c.817G>C
NM_130835.2:c.928G>C
NM_130836.3:c.982G>C
NP_570846.1:p.Val292Leu
NP_570847.2:p.Val309Leu
NP_570848.1:p.Val310Leu
NP_570849.2:p.Val328Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,637,952 - 193,637,952CLINVAR
GRCh373193,355,741 - 193,355,741CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: Optic Atrophy Type 1; Optic Atrophy, Autosomal Dominant



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13474002
Created: 2018-01-09
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.