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Variant : CV205707 (NM_006280.3(SSR4):c.317del (p.Phe106fs)) Homo sapiens

Symbol: CV205707
Name: NM_006280.3(SSR4):c.317del (p.Phe106fs)
Condition: Congenital disorder of glycosylation type 1y [RCV000191048]
Clinical Significance: pathogenic
Last Evaluated: 06/11/2014
Review Status: no assertion criteria provided
Related Genes: SSR4  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|research
HGVS Name(s): NM_006280.3:c.317del
NM_001204527.2:c.341del
NM_001204526.1:c.350del
NG_041795.1:g.8606del
NC_000023.11:g.153797780del
NC_000023.10:g.153063235del
NR_037927.1:n.662del
NM_006280.2:c.316delT
NP_006271.1:p.Phe106fs
NP_001191456.1:p.Phe114fs
NP_001191455.1:p.Phe117fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,797,779 - 153,797,779CLINVAR
GRCh37X153,063,234 - 153,063,234CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: CDG IY
Age Of Onset: infancy|neonatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10408159
Created: 2015-11-10
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.