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Variant : CV424634 (NM_001281775.3(ZMYND8):c.2629C>T (p.Gln877Ter)) Homo sapiens

Symbol: CV424634
Name: NM_001281775.3(ZMYND8):c.2629C>T (p.Gln877Ter)
Condition: Intellectual disability [RCV000496152]
Clinical Significance: uncertain significance
Last Evaluated: 08/01/2017
Review Status: criteria provided, single submitter
Related Genes: ZMYND8  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.47238794G>A
NC_000020.10:g.45867538G>A
NP_001268704.1:p.Gln877Ter
NM_001281779.3:c.1723+102C>T
NM_001281777.3:c.2452+102C>T
NM_001281782.3:c.2452+102C>T
NM_001281774.3:c.2467+102C>T
NM_012408.6:c.2527+102C>T
NM_183047.4:c.2527+102C>T
NM_001281778.3:c.2554C>T
NP_001268707.1:p.Gln852Ter
NP_001350670.1:p.Gln857Ter
NP_001268712.1:p.Gln877Ter
NP_001350643.1:p.Gln884Ter
NM_001281784.3:c.2413C>T
NM_001281773.2:c.2569C>T
NM_001363741.1:c.2569C>T
NM_001281775.3:c.2629C>T
NM_001281783.3:c.2629C>T
NM_001363714.1:c.2650C>T
NM_001281775.2:c.2629C>T
NP_001268701.1:p.Gln857Ter
NP_001268702.1:p.Gln857Ter
NM_001281780.3:c.1723+102C>T
NM_001281771.3:c.2210-2278C>T
NM_001281776.3:c.2285-2278C>T
NM_183048.4:c.2452+102C>T
NM_001281781.3:c.2311+102C>T
NM_001281772.2:c.2569C>T
NP_001268713.1:p.Gln805Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382047,238,794 - 47,238,794CLINVAR
GRCh372045,867,538 - 45,867,538CLINVAR
Cytogenetic Map2020q13.12CLINVAR
Trait Synonyms: Dull intelligence; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation; Poor school performance



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13210902
Created: 2017-09-12
Species: Homo sapiens
Last Modified: 2020-10-20
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.