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Variant : CV535715 (NM_004606.4(TAF1):c.4286C>T (p.Pro1429Leu)) Homo sapiens

Symbol: CV535715
Name: NM_004606.4(TAF1):c.4286C>T (p.Pro1429Leu)
Condition: Mental retardation, X-linked, syndromic 33 [RCV000656395]
Clinical Significance: likely pathogenic
Last Evaluated: 01/02/2017
Review Status: criteria provided, single submitter
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_004606.3:c.4286C>T
NC_000023.10:g.70627843C>T
NC_000023.11:g.71407993C>T
NM_004606.4:c.4286C>T
NP_004597.2:p.Pro1429Leu
NG_012771.2:g.46730C>T
NM_138923.3:c.4223C>T
NM_001286074.1:c.4286C>T
NR_104387.2:n.4244C>T
NR_104388.1:n.4362C>T
NR_104390.1:n.4362C>T
NR_104391.1:n.4362C>T
NR_104392.1:n.4362C>T
NR_104393.1:n.4362C>T
NR_104394.1:n.4362C>T
NR_104395.1:n.4362C>T
NP_620278.1:p.Pro1408Leu
NP_001273003.1:p.Pro1429Leu
NR_104389.1:n.4362C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,407,993 - 71,407,993CLINVAR
GRCh37X70,627,843 - 70,627,843CLINVAR
Cytogenetic MapXXq13.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13674010
Created: 2018-07-10
Species: Homo sapiens
Last Modified: 2019-10-08
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.