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Variant : CV198650 (NM_001204527.1(SSR4):c.380_381delAG (p.Arg128Glufs)) Homo sapiens

Symbol: CV198650
Name: NM_001204527.1(SSR4):c.380_381delAG (p.Arg128Glufs)
Condition: Congenital disorder of glycosylation type 1y [RCV000184044]
Clinical Significance: likely pathogenic
Last Evaluated: 12/12/2013
Review Status: no assertion criteria provided
Related Genes: SSR4  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_001204527.1:c.380_381delAG
NG_041795.1:g.8901_8902delAG
NC_000023.11:g.153798075_153798076delAG
NW_003871103.3:g.1232058_1232059delAG
NC_000023.10:g.153063530_153063531delAG
NP_001191456.1:p.Arg128Glufs
NR_037927.1:n.701_702delAG
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,798,075 - 153,798,076CLINVAR
GRCh37X153,063,530 - 153,063,531CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: CDG IY
Age Of Onset: infancy|neonatal
Prevalence: <1 / 1 000 000




Additional Information

 
CRRD Object Information
CRRD ID: 10056028
Created: 2015-08-11
Species: Homo sapiens
Last Modified: 2017-04-04
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.