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Variant : CV514148 (NM_000390.4(CHM):c.75_77del (p.Ala26del)) Homo sapiens

Symbol: CV514148
Name: NM_000390.4(CHM):c.75_77del (p.Ala26del)
Condition: Chorioretinal atrophy [RCV000626681]
Clinical Significance: likely pathogenic
Last Evaluated: 01/01/2017
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: deletion (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_009874.2:g.25031_25033del
LRG_699:g.25031_25033del
NM_000390.2:c.75_77delTGC
NP_000381.1:p.Ala26del
NP_001138886.1:p.Ala26del
NM_001362518.2:c.-366_-364del
NM_001362519.1:c.-366_-364del
NM_001320959.1:c.-370_-368del
NM_001362517.1:c.-370_-368del
NM_001145414.4:c.75_77del
NC_000023.11:g.86027532_86027534del
NC_000023.10:g.85282536_85282538del
NM_000390.4:c.75_77del
LRG_699t1:c.75_77del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X86,027,530 - 86,027,532CLINVAR
GRCh37X85,282,534 - 85,282,536CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Trait Synonyms: Chorioretinal thinning; Difficulties with night vision; Night-blindness; Nyctalopia; Poor night vision



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13612028
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2019-09-10
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.