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Variant : CV446803 (NM_000390.4(CHM):c.820-2A>G) Homo sapiens

Symbol: CV446803
Name: NM_000390.4(CHM):c.820-2A>G
Condition: not provided [RCV000521080]
Clinical Significance: pathogenic
Last Evaluated: 06/15/2018
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.85957977T>C
NC_000023.10:g.85212982T>C
LRG_699:g.94586A>G
NG_009874.2:g.94586A>G
NM_001362519.1:c.376-2A>G
NM_000390.4:c.820-2A>G
NM_001320959.1:c.376-2A>G
NM_001362517.1:c.376-2A>G
NM_001362518.2:c.376-2A>G
LRG_699t1:c.820-2A>G
NM_000390.2:c.820-2A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,957,977 - 85,957,977CLINVAR
GRCh37X85,212,982 - 85,212,982CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13504549
Created: 2018-01-16
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.