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Variant : CV101624 (NM_015560.2(OPA1):c.473G>A (p.Ser158Asn)) Homo sapiens

Symbol: CV101624
Name: NM_015560.2(OPA1):c.473G>A (p.Ser158Asn)
Condition: AllHighlyPenetrant [RCV000081768]|Dominant hereditary optic atrophy [RCV000576477]|Optic Atrophy, Dominant [RCV000339112]|not provided [RCV000127273]|not provided [RCV000676692]|not specified [RCV000081768]
Clinical Significance: benign
Last Evaluated: 04/28/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: missense|missense variant|intron|intron variant
Evidence: clinical testing
HGVS Name(s): LRG_337t1:c.473G>A
LRG_337t2:c.473G>A
NM_015560.2:c.473G>A
LRG_337:g.29059G>A
NG_011605.1:g.29059G>A
NC_000003.12:g.193617202G>A
NC_000003.11:g.193334991G>A
LRG_337p1:p.Ser158Asn
LRG_337p2:p.Ser158Asn
NP_056375.2:p.Ser158Asn
NP_570850.2:p.Ser158Asn
p.S158N
O60313:p.Ser158Asn
NM_001354663.2:c.76+1432G>A
NP_056375.2:p.Ser158Asn
NM_130837.2:c.473G>A
NM_001354664.2:c.101G>A
NM_130831.3:c.448+1432G>A
NM_130833.2:c.448+1432G>A
NM_130832.3:c.449-582G>A
NM_130835.2:c.449-582G>A
NM_130834.3:c.473G>A
NM_130836.3:c.473G>A
NP_570847.2:p.Ser158Asn
NP_570849.2:p.Ser158Asn
NP_001341593.1:p.Ser34Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,617,202 - 193,617,202CLINVAR
GRCh373193,334,991 - 193,334,991CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8642640
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.