Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV359050 (NM_006280.3(SSR4):c.417+1G>A) Homo sapiens

Symbol: CV359050
Name: NM_006280.3(SSR4):c.417+1G>A
Condition: Congenital disorder of glycosylation type 1y [RCV000412518]
Clinical Significance: pathogenic
Last Evaluated: 09/01/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: SSR4  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Nucleotide Change: ivs5ds, g-a, +1
Evidence: clinical testing|literature only
HGVS Name(s): NM_001204526.1:c.450+1G>A
NM_006280.2:c.417+1G>A
NM_001204527.1:c.441+1G>A
NG_041795.1:g.8963G>A
NC_000023.11:g.153798137G>A
NC_000023.10:g.153063592G>A
NM_006280.3:c.417+1G>A
NM_001204527.2:c.441+1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,798,137 - 153,798,137CLINVAR
GRCh37X153,063,592 - 153,063,592CLINVAR
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: 12741582
Created: 2017-02-07
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.