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Variant : CV270010 (NM_000390.4(CHM):c.117-7G>T) Homo sapiens

Symbol: CV270010
Name: NM_000390.4(CHM):c.117-7G>T
Condition: not specified [RCV000328889]
Clinical Significance: uncertain significance
Last Evaluated: 01/12/2016
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): NM_001362517.1:c.-328-7G>T
NM_000390.4:c.117-7G>T
LRG_699:g.70747G>T
NG_009874.2:g.70747G>T
NC_000023.11:g.85981816C>A
NC_000023.10:g.85236820C>A
NM_001362518.2:c.-324-7G>T
NM_001362519.1:c.-324-7G>T
NM_001320959.1:c.-328-7G>T
NM_001145414.4:c.117-7G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,981,816 - 85,981,816CLINVAR
GRCh37X85,236,820 - 85,236,820CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11639897
Created: 2017-01-11
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.