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Variant : CV488886 (NM_000390.4(CHM):c.311C>G (p.Ala104Gly)) Homo sapiens

Symbol: CV488886
Name: NM_000390.4(CHM):c.311C>G (p.Ala104Gly)
Condition: not specified [RCV000591547]
Clinical Significance: benign
Last Evaluated: 10/06/2016
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.73793C>G
NG_009874.2:g.73793C>G
NC_000023.11:g.85978770G>C
NC_000023.10:g.85233774G>C
NP_000381.1:p.Ala104Gly
NP_001138886.1:p.Ala104Gly
NM_001362518.2:c.-130C>G
NM_001362519.1:c.-130C>G
NM_001320959.1:c.-134C>G
NM_001362517.1:c.-134C>G
NM_000390.4:c.311C>G
NM_001145414.4:c.311C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,978,770 - 85,978,770CLINVAR
GRCh37X85,233,774 - 85,233,774CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13522287
Created: 2018-04-10
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.