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Variant : CV623919 (NM_000390.4(CHM):c.3G>A (p.Met1Ile)) Homo sapiens

Symbol: CV623919
Name: NM_000390.4(CHM):c.3G>A (p.Met1Ile)
Condition: Retinitis pigmentosa [RCV000787564]
Clinical Significance: likely pathogenic
Last Evaluated: 04/01/2018
Review Status: no assertion criteria provided
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001582)
Source: CLINVAR
Molecular Consequence: initiatior codon variant
Evidence: research
HGVS Name(s): LRG_699t1:c.3G>A
NM_000390.4:c.3G>A
NM_001145414.4:c.3G>A
NP_000381.1:p.Met1Ile
LRG_699:g.5033G>A
NG_009874.2:g.5033G>A
NC_000023.11:g.86047530C>T
NC_000023.10:g.85302534C>T
NM_000390.2:c.3G>A
NP_001138886.1:p.Met1Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38X86,047,530 - 86,047,530CLINVAR
GRCh37X85,302,534 - 85,302,534CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Trait Synonyms: Retinotapetal degeneration; Tapetoretinal degeneration



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698582
Created: 2019-08-06
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.