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Variant : CV431849 (NM_000390.4(CHM):c.315-1536A>G) Homo sapiens

Symbol: CV431849
Name: NM_000390.4(CHM):c.315-1536A>G
Condition: Abnormality of the eye [RCV000504914]|Retinal dystrophy [RCV000504724]
Clinical Significance: likely pathogenic
Last Evaluated: 01/01/2015
Review Status: no assertion criteria provided
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: research
HGVS Name(s): NM_001362518.2:c.-126-1540A>G
NM_001362517.1:c.-130-1536A>G
LRG_699:g.86975A>G
NG_009874.2:g.86975A>G
NC_000023.11:g.85965588T>C
NC_000023.10:g.85220593T>C
NM_000390.2:c.315-1536A>G
LRG_699t1:c.315-1536A>G
NM_001362519.1:c.-126-1540A>G
NM_001320959.1:c.-130-1536A>G
NM_000390.4:c.315-1536A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,965,588 - 85,965,588CLINVAR
GRCh37X85,220,593 - 85,220,593CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Trait Synonyms: Abnormal eye; Eye disease



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13434994
Created: 2017-10-10
Species: Homo sapiens
Last Modified: 2019-09-06
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.