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Variant : CV359051 (NM_006280.3(SSR4):c.418-1G>A) Homo sapiens

Symbol: CV359051
Name: NM_006280.3(SSR4):c.418-1G>A
Condition: Congenital disorder of glycosylation type 1y [RCV000412598]
Clinical Significance: pathogenic
Last Evaluated: 11/28/2016
Review Status: no assertion criteria provided
Related Genes: SSR4  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Nucleotide Change: ivs5as, g-c, -1
Evidence: literature only
HGVS Name(s): NG_041795.1:g.9154G>A
NC_000023.11:g.153798328G>A
NC_000023.10:g.153063783G>A
NM_006280.3:c.418-1G>A
NM_001204527.2:c.442-1G>A
NM_001204526.1:c.451-1G>A
NM_001204527.1:c.442-1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,798,328 - 153,798,328CLINVAR
GRCh37X153,063,783 - 153,063,783CLINVAR
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: 12741601
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.