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Variant : CV359049 (NM_006280.3(SSR4):c.356_357AG[1] (p.Arg120fs)) Homo sapiens

Symbol: CV359049
Name: NM_006280.3(SSR4):c.356_357AG[1] (p.Arg120fs)
Condition: Congenital disorder of glycosylation type 1y [RCV000412666]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 11/28/2016
Review Status: no assertion criteria provided
Related Genes: SSR4  
Variant Type: microsatellite (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_006280.3:c.356_357AG[1]
NM_001204527.2:c.380_381AG[1]
NG_041795.1:g.8901_8902AG[1]
NM_001204526.1:c.389_390AG[1]
NC_000023.11:g.153798075_153798076AG[1]
NC_000023.10:g.153063530_153063531AG[1]
NR_037927.1:n.701_702AG[1]
NM_006280.2:c.358_359del
NP_006271.1:p.Arg120fs
NP_001191456.1:p.Arg128fs
NP_001191455.1:p.Arg131fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,798,077 - 153,798,078CLINVAR
GRCh37X153,063,532 - 153,063,533CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: CDG IY
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12741616
Created: 2017-02-07
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.