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Variant : CV919783 (NM_000918.4(P4HB):c.1148A>T (p.Asp383Val)) Homo sapiens

Symbol: CV919783
Name: NM_000918.4(P4HB):c.1148A>T (p.Asp383Val)
Condition: Laryngomalacia [RCV001198907]
Clinical Significance: uncertain significance
Last Evaluated: 04/18/2019
Review Status: criteria provided, single submitter
Related Genes: P4HB  
Variant Type: single nucleotide variant (SO:0001583)
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_000918.4:c.1148A>T
Human AssemblyChrPosition (strand)Source
GRCh381781,845,900 - 81,845,900CLINVAR
GRCh371779,803,776 - 79,803,776CLINVAR
Cytogenetic Map1717q25.3CLINVAR
Trait Synonyms: Agyria; Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis multiplex congenita; Arthrogryposis, congenital; Atria septal defect; Atrial septal defect; Atrial septum defect; Bilateral clubfeet; Bilateral clubfoot; Bilateral congenital sensorineural deafness; Bilateral talipes equinovarus; Blue outer white part of eyeball; Blue sclera; Blue sclerae; Bluish sclerae; Club foot on both sides; Congenital arthromyodysplasia; Congenital bone fractures; Congenital cerebellar hypoplasia; Congenital multiple arthrogryposis; Congenital neurosensory deafness; Congenital perceptive deafness; Congenital sensorineural deafness; Congenital sensorineural hearing impairment; Congenital sensorineural hearing loss; Congenital strabismus; Cross-eyed present from birth; Decreased muscle tone; Defect in the atrial septum; Dysgenesis of corpus callosum; Dysplasia of corpus callosum; Dysplastic corpus callosum; Fibrous ankylosis of multiple joints; Funnel chest; Generalized hypotonia; Generalized muscular hypotonia; Guerin-Stern syndrome; Guérin-Stern syndrome; Hypoplasia of cerebellum; Hypoplasia of the pons; Hypoplastic cerebellum; Interatrial communication; Laryngomalacia congenital; Lissencephaly; Low muscle tone; Maternal oligohydramnios; Multiple fractures present at birth; Multiple prenatal fractures; Myodystrophia fetalis deformans; Numerous multiple fractures present at birth; Numerous multiple fractures that are present at birth; Oligohydramnios; Optic atrophy; Optic nerve atrophy; Optic-nerve degeneration; Otto syndrome; Pectus excavatum; Pontine hypoplasia; Rocher-Sheldon syndrome; Rossi syndrome; Small cerebellum; Underdeveloped cerebellum; Unilateral vocal cord paresis

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 38463221
Created: 2020-08-11
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE


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