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

Variant : CV489965 (NM_000390.4(CHM):c.434C>T (p.Ser145Leu)) Homo sapiens

Symbol: CV489965
Name: NM_000390.4(CHM):c.434C>T (p.Ser145Leu)
Condition: not specified [RCV000593740]
Clinical Significance: uncertain significance
Last Evaluated: 12/16/2016
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|missense variant
Evidence: clinical testing
HGVS Name(s): LRG_699:g.88630C>T
NG_009874.2:g.88630C>T
NC_000023.11:g.85963933G>A
NC_000023.10:g.85218938G>A
NP_000381.1:p.Ser145Leu
NM_001320959.1:c.-11C>T
NM_000390.4:c.434C>T
NM_001362517.1:c.-11C>T
NM_001362518.2:c.-11C>T
NM_001362519.1:c.-11C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,963,933 - 85,963,933CLINVAR
GRCh37X85,218,938 - 85,218,938CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13524029
Created: 2018-04-10
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

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