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Variant : CV359048 (NM_006280.3(SSR4):c.187-301_352-15del) Homo sapiens

Symbol: CV359048
Name: NM_006280.3(SSR4):c.187-301_352-15del
Condition: Congenital disorder of glycosylation type 1y [RCV000412580]
Clinical Significance: pathogenic
Last Evaluated: 11/28/2016
Review Status: no assertion criteria provided
Related Genes: SSR4  
Variant Type: deletion (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: literature only
HGVS Name(s): NM_006280.3:c.187-301_352-15del
NM_001204527.2:c.211-301_376-15del
NM_006280.2:c.187-301_352-15del
NG_041795.1:g.7983_8882del
NC_000023.11:g.153797157_153798056del
NC_000023.10:g.153062612_153063511del
NM_001204526.1:c.220-301_385-15del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,797,157 - 153,798,056CLINVAR
GRCh37X153,062,612 - 153,063,511CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: CDG IY
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12739069
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.