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Variant : CV590565 (NM_004606.4(TAF1):c.3568C>T (p.Arg1190Cys)) Homo sapiens

Symbol: CV590565
Name: NM_004606.4(TAF1):c.3568C>T (p.Arg1190Cys)
Condition: Mental retardation, X-linked, syndromic 33 [RCV000735897]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: criteria provided, single submitter
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: in vivo|research
HGVS Name(s): NR_104387.2:n.3526C>T
NP_620278.1:p.Arg1169Cys
NP_001273003.1:p.Arg1190Cys
NM_138923.3:c.3505C>T
NM_001286074.1:c.3568C>T
NR_104391.1:n.3644C>T
NR_104392.1:n.3644C>T
NM_004606.4:c.3568C>T
NG_012771.2:g.36091C>T
NC_000023.11:g.71397354C>T
NP_004597.2:p.Arg1190Cys
NC_000023.10:g.70617204C>T
NR_104390.1:n.3644C>T
NR_104388.1:n.3644C>T
NR_104389.1:n.3644C>T
NR_104394.1:n.3644C>T
NR_104395.1:n.3644C>T
NR_104393.1:n.3644C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,397,354 - 71,397,354CLINVAR
GRCh37X70,617,204 - 70,617,204CLINVAR
Cytogenetic MapXXq13.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14349651
Created: 2019-02-12
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.