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Variant : CV216916 (NM_004606.4(TAF1):c.4010T>C (p.Ile1337Thr)) Homo sapiens

Symbol: CV216916
Name: NM_004606.4(TAF1):c.4010T>C (p.Ile1337Thr)
Condition: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 [RCV000203524]|Mental retardation, X-linked, syndromic 33 [RCV000203524]
Clinical Significance: pathogenic
Last Evaluated: 12/03/2015
Review Status: no assertion criteria provided
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_004606.4:c.4010T>C
NG_012771.2:g.40428T>C
NC_000023.11:g.71401691T>C
NC_000023.10:g.70621541T>C
NP_004597.2:p.Ile1337Thr
NM_138923.3:c.3947T>C
NM_001286074.1:c.4010T>C
NR_104387.2:n.3968T>C
NR_104388.1:n.4086T>C
NR_104389.1:n.4086T>C
NR_104390.1:n.4086T>C
NR_104391.1:n.4086T>C
NR_104393.1:n.4086T>C
NR_104394.1:n.4086T>C
NR_104395.1:n.4086T>C
NP_620278.1:p.Ile1316Thr
NP_001273003.1:p.Ile1337Thr
NR_104392.1:n.4086T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,401,691 - 71,401,691CLINVAR
GRCh37X70,621,541 - 70,621,541CLINVAR
Cytogenetic MapXXq13.1CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10766586
Created: 2016-02-09
Species: Homo sapiens
Last Modified: 2019-10-15
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.