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Variant : CV622929 (NM_004606.4(TAF1):c.2831T>C (p.Ile944Thr)) Homo sapiens

Symbol: CV622929
Name: NM_004606.4(TAF1):c.2831T>C (p.Ile944Thr)
Condition: Mental retardation, X-linked, syndromic 33 [RCV000785937]
Clinical Significance: uncertain significance
Last Evaluated: 06/15/2018
Review Status: criteria provided, single submitter
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NM_004606.4:c.2831T>C
NC_000023.10:g.70609505T>C
NP_004597.2:p.Ile944Thr
NG_012771.2:g.28392T>C
NC_000023.11:g.71389655T>C
NM_138923.3:c.2768T>C
NM_001286074.1:c.2831T>C
NR_104387.2:n.2789T>C
NR_104388.1:n.2907T>C
NR_104389.1:n.2907T>C
NR_104390.1:n.2907T>C
NR_104391.1:n.2907T>C
NR_104392.1:n.2907T>C
NR_104393.1:n.2907T>C
NR_104394.1:n.2907T>C
NR_104395.1:n.2907T>C
NP_620278.1:p.Ile923Thr
NP_001273003.1:p.Ile944Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,389,655 - 71,389,655CLINVAR
GRCh37X70,609,505 - 70,609,505CLINVAR
Cytogenetic MapXXq13.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14695705
Created: 2019-07-09
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.