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

Variant : CV244185 (NM_014874.3(MFN2):c.-150+4A>T) Homo sapiens

Symbol: CV244185
Name: NM_014874.3(MFN2):c.-150+4A>T
Condition: not specified [RCV000236087]
Clinical Significance: uncertain significance
Last Evaluated: 08/28/2015
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_255t1:c.-150+4A>T
NM_014874.3:c.-150+4A>T
LRG_255:g.5308A>T
NG_007945.1:g.5308A>T
NC_000001.11:g.11980488A>T
NC_000001.10:g.12040545A>T
NM_001127660.1:c.-5+4A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,980,488 - 11,980,488CLINVAR
GRCh37112,040,545 - 12,040,545CLINVAR
Cytogenetic Map11p36.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11523542
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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