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Variant : CV481280 (NM_001079537.2(TRAPPC6B):c.124C>T (p.Arg42Ter) AND NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY,) Homo sapiens

Symbol: CV481280
Name: NM_001079537.2(TRAPPC6B):c.124C>T (p.Arg42Ter) AND NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY,
Condition: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY [RCV000578216]
Clinical Significance: pathogenic
Last Evaluated: 03/26/2018
Review Status: no assertion criteria provided
Related Genes: TRAPPC6B  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): NM_177452.4:c.124C>T
NC_000014.9:g.39159508G>A
NC_000014.8:g.39628712G>A
NP_803235.1:p.Arg42Ter
NM_177452.3:c.124C>T
NP_001073005.1:p.Arg42Ter
NM_001079537.2:c.124C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381439,159,508 - 39,159,508CLINVAR
GRCh371439,628,712 - 39,628,712CLINVAR
Cytogenetic Map1414q21.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13508677
Created: 2018-03-06
Species: Homo sapiens
Last Modified: 2020-02-20
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.