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Variant : CV379558 (NM_000390.4(CHM):c.49+5G>A) Homo sapiens

Symbol: CV379558
Name: NM_000390.4(CHM):c.49+5G>A
Condition: not provided [RCV000419936]
Clinical Significance: likely pathogenic
Last Evaluated: 08/26/2016
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_699:g.5084G>A
NG_009874.2:g.5084G>A
NC_000023.11:g.86047479C>T
NC_000023.10:g.85302483C>T
NM_000390.4:c.49+5G>A
NM_001145414.4:c.49+5G>A
NM_000390.2:c.49+5G>A
LRG_699t1:c.49+5G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X86,047,479 - 86,047,479CLINVAR
GRCh37X85,302,483 - 85,302,483CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12848876
Created: 2017-04-11
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.