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Variant : CV380133 (NM_000390.4(CHM):c.265A>T (p.Ser89Cys)) Homo sapiens

Symbol: CV380133
Name: NM_000390.4(CHM):c.265A>T (p.Ser89Cys)
Condition: not specified [RCV000441588]
Clinical Significance: benign
Last Evaluated: 04/29/2015
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.73747A>T
NG_009874.2:g.73747A>T
NC_000023.11:g.85978816T>A
NC_000023.10:g.85233820T>A
NM_000390.2:c.265A>T
NP_000381.1:p.Ser89Cys
NP_001138886.1:p.Ser89Cys
LRG_699t1:c.265A>T
NM_001362518.2:c.-176A>T
NM_001362519.1:c.-176A>T
NM_001320959.1:c.-180A>T
NM_001362517.1:c.-180A>T
NM_000390.4:c.265A>T
NM_001145414.4:c.265A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,978,816 - 85,978,816CLINVAR
GRCh37X85,233,820 - 85,233,820CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12846409
Created: 2017-04-11
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.