Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV265072 (NM_000390.4(CHM):c.116+1G>T) Homo sapiens

Symbol: CV265072
Name: NM_000390.4(CHM):c.116+1G>T
Condition: not provided [RCV000354112]
Clinical Significance: pathogenic
Last Evaluated: 08/04/2016
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): LRG_699:g.25073G>T
NG_009874.2:g.25073G>T
NC_000023.11:g.86027490C>A
NC_000023.10:g.85282494C>A
NM_001362519.1:c.-325+1G>T
NM_001320959.1:c.-329+1G>T
LRG_699t1:c.116+1G>T
NM_000390.4:c.116+1G>T
NM_001145414.4:c.116+1G>T
NM_000390.2:c.116+1G>T
NM_001362518.2:c.-325+1G>T
NM_001362517.1:c.-329+1G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X86,027,490 - 86,027,490CLINVAR
GRCh37X85,282,494 - 85,282,494CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11581050
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.