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Variant : CV167923 (NM_006280.2(SSR4):c.317delT (p.Phe106Serfs)) Homo sapiens

Symbol: CV167923
Name: NM_006280.2(SSR4):c.317delT (p.Phe106Serfs)
Condition: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (1 patient) [RCV000145405]|Congenital disorder of glycosylation type 1y [RCV000145405]
Clinical Significance: pathogenic|not provided
Last Evaluated: 11/19/2014
Review Status: classified by single submitter|no assertion criteria provided|not classified by submitter
Related Genes: SSR4  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant|non-coding transcript variant
Evidence: literature only
HGVS Name(s): NG_041795.1:g.8606delT
NM_006280.2:c.317delT
NM_001204527.1:c.341delT
NC_000023.11:g.153797780delT
NC_000023.10:g.153063235delT
NP_006271.1:p.Phe106Serfs
NP_001191456.1:p.Phe114Serfs
NR_037927.1:n.662delT
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,797,780 - 153,797,780CLINVAR
GRCh37X153,063,235 - 153,063,235CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: CDG IY; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy
Age Of Onset: neonatal
Prevalence: <1 / 1 000 000




Additional Information

 
CRRD Object Information
CRRD ID: 9684508
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2016-05-03
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.