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Variant : CV486499 (NM_000390.4(CHM):c.1413G>A (p.Gln471=)) Homo sapiens

Symbol: CV486499
Name: NM_000390.4(CHM):c.1413G>A (p.Gln471=)
Condition: not provided [RCV000585239]
Clinical Significance: likely pathogenic
Last Evaluated: 10/31/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.85900646C>T
NC_000023.10:g.85155651C>T
LRG_699:g.151917G>A
NG_009874.2:g.151917G>A
NP_000381.1:p.Gln471=
NM_001320959.1:c.969G>A
NM_001362517.1:c.969G>A
NM_001362518.2:c.969G>A
NM_001362519.1:c.969G>A
NP_001307888.1:p.Gln323=
NP_001349446.1:p.Gln323=
NP_001349447.1:p.Gln323=
NP_001349448.1:p.Gln323=
NM_000390.4:c.1413G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,900,646 - 85,900,646CLINVAR
GRCh37X85,155,651 - 85,155,651CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13518941
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.