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Variant : CV413842 (NM_000390.4(CHM):c.315-4564C>G) Homo sapiens

Symbol: CV413842
Name: NM_000390.4(CHM):c.315-4564C>G
Condition: not provided [RCV000488021]
Clinical Significance: uncertain significance
Last Evaluated: 02/28/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
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.83947C>G
NG_009874.2:g.83947C>G
NC_000023.11:g.85968616G>C
NC_000023.10:g.85223621G>C
NM_001362519.1:c.-126-4568C>G
NM_001362518.2:c.-126-4568C>G
NM_001320959.1:c.-130-4564C>G
NM_001362517.1:c.-130-4564C>G
NM_000390.4:c.315-4564C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,968,616 - 85,968,616CLINVAR
GRCh37X85,223,621 - 85,223,621CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12905807
Created: 2017-06-06
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.