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Variant : CV265133 (NM_000390.4(CHM):c.49+1G>T) Homo sapiens

Symbol: CV265133
Name: NM_000390.4(CHM):c.49+1G>T
Condition: not provided [RCV000313760]
Clinical Significance: pathogenic
Last Evaluated: 09/29/2015
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|splice donor variant
Evidence: clinical testing
HGVS Name(s): LRG_699:g.5080G>T
NG_009874.2:g.5080G>T
NC_000023.11:g.86047483C>A
NC_000023.10:g.85302487C>A
LRG_699t1:c.49+1G>T
NM_001145414.4:c.49+1G>T
NM_000390.4:c.49+1G>T
NM_000390.2:c.49+1G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X86,047,483 - 86,047,483CLINVAR
GRCh37X85,302,487 - 85,302,487CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11633141
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.