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Variant : CV621026 (NM_017412.4(FZD3):c.1616dup (p.Asp539fs)) Homo sapiens

Symbol: CV621026
Name: NM_017412.4(FZD3):c.1616dup (p.Asp539fs)
Condition: Corpus callosum, agenesis of [RCV000779663]
Clinical Significance: likely pathogenic
Last Evaluated: 02/18/2019
Review Status: no assertion criteria provided
Related Genes: FZD3  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): NM_017412.4:c.1616dup
NG_029723.1:g.66596dup
NC_000008.10:g.28413317dup
NM_017412.3:c.1616dup
NC_000008.11:g.28555800dup
NM_145866.1:c.1616dup
NP_059108.1:p.Asp539fs
NP_665873.1:p.Asp539fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38828,555,799 - 28,555,800CLINVAR
GRCh37828,413,316 - 28,413,317CLINVAR
Cytogenetic Map88p21.1CLINVAR
Trait Synonyms: Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis multiplex congenita; Arthrogryposis, congenital; Callosal agenesis; Congenital arthromyodysplasia; Congenital multiple arthrogryposis; Corpus callosum agenesis; Da silva syndrome; Dysplastic or absent corpus callosum; Fibrous ankylosis of multiple joints; Guerin-Stern syndrome; Guérin-Stern syndrome; Hydrocephalus; Hydrocephaly; Isolated corpus callosum agenesis; Mental retardation hypoplastic corpus callosum preauricular tag; Multicystic dysplastic kidney; Multicystic kidney dysplasia; Multicystic kidneys; Multicystic renal dysplasia; Myodystrophia fetalis deformans; Nonsyndromal hydrocephalus; Otto syndrome; Rocher-Sheldon syndrome; Rossi syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14689534
Created: 2019-06-11
Species: Homo sapiens
Last Modified: 2020-09-08
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.