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Variant : CV623628 (NM_177939.3(P4HTM):c.286dup (p.Gln96fs)) Homo sapiens

Symbol: CV623628
Name: NM_177939.3(P4HTM):c.286dup (p.Gln96fs)
Condition: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES [RCV000787324]|Intellectual disability [RCV000850577]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 07/12/2019
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: P4HTM  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|literature only
HGVS Name(s): NC_000003.11:g.49027975dupC
NM_177938.2:c.286dupC
NM_177938.2:c.286dup
NC_000003.12:g.48990542dup
NC_000003.11:g.49027975dup
NM_177939.3:c.286dup
NP_808807.2:p.Gln96fs
NP_808808.1:p.Gln96fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38348,990,538 - 48,990,539CLINVAR
GRCh37349,027,971 - 49,027,972CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Dull intelligence; HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation; Poor school performance



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698201
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-10-15
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.