NM_004782.4(SNAP29):c.354dup (p.Leu119fs)Rat Genome Database

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Variant : CV264778 (NM_004782.4(SNAP29):c.354dup (p.Leu119fs)) Homo sapiens

Symbol: CV264778
Name: NM_004782.4(SNAP29):c.354dup (p.Leu119fs)
RGD ID: 11632728
Condition: CEDNIK syndrome [RCV000778648]|Leukodystrophy, hypomyelinating, 2 [RCV000454232]|not provided [RCV000280604]
Clinical Significance: pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 09/13/2019
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter|no assertion criteria provided
Related Genes: SNAP29  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_004782.3:c.354dup
NG_012152.1:g.16450dup
NM_004782.4:c.354dup
NC_000022.11:g.20870453dup
NC_000022.10:g.21224741dup
NM_004782.3:c.354dupG
NP_004773.1:p.Leu119fs
Position
Human AssemblyChrPosition (strand)Source
GRCh382220,870,447 - 20,870,448CLINVAR
GRCh372221,224,735 - 21,224,736CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Trait Synonyms: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; PELIZAEUS-MERZBACHER-LIKE DISEASE, 1
Age Of Onset: infancy



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25356970  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000280604 CLINVAR
  RCV000454232 CLINVAR
  RCV000778648 CLINVAR
dbSNP (RS) rs751575036 CLINVAR
MedGen C1836033 CLINVAR
  C1837355 CLINVAR
  CN517202 CLINVAR
NCBI Gene SNAP29 CLINVAR
OMIM 604202 CLINVAR
  608804 CLINVAR
  609528 CLINVAR