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

Variant : CV271008 (NM_000390.4(CHM):c.1100G>T (p.Arg367Leu)) Homo sapiens

Symbol: CV271008
Name: NM_000390.4(CHM):c.1100G>T (p.Arg367Leu)
Condition: not specified [RCV000355549]
Clinical Significance: benign
Last Evaluated: 04/05/2016
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_699:g.96344G>T
NG_009874.2:g.96344G>T
NC_000023.11:g.85956219C>A
NC_000023.10:g.85211224C>A
NP_000381.1:p.Arg367Leu
NP_001307888.1:p.Arg219Leu
NP_001349446.1:p.Arg219Leu
NP_001349447.1:p.Arg219Leu
NM_000390.4:c.1100G>T
NM_001320959.1:c.656G>T
NM_001362517.1:c.656G>T
NP_001349448.1:p.Arg219Leu
NM_001362518.2:c.656G>T
NM_001362519.1:c.656G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,956,219 - 85,956,219CLINVAR
GRCh37X85,211,224 - 85,211,224CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11641364
Created: 2017-01-11
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.