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Variant : CV625879 (NM_004606.4(TAF1):c.481C>G (p.Pro161Ala)) Homo sapiens

Symbol: CV625879
Name: NM_004606.4(TAF1):c.481C>G (p.Pro161Ala)
Condition: Mental retardation, X-linked, syndromic 33 [RCV000790523]
Clinical Significance: uncertain significance
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: research
HGVS Name(s): NM_004606.4:c.481C>G
NM_138923.3:c.481C>G
NC_000023.11:g.71375235C>G
NP_620278.1:p.Pro161Ala
NG_012771.2:g.13972C>G
NC_000023.10:g.70595085C>G
NP_004597.2:p.Pro161Ala
NM_001286074.1:c.481C>G
NR_104387.2:n.439C>G
NR_104388.1:n.557C>G
NR_104389.1:n.557C>G
NR_104390.1:n.557C>G
NR_104391.1:n.557C>G
NR_104392.1:n.557C>G
NR_104393.1:n.557C>G
NR_104394.1:n.557C>G
NP_001273003.1:p.Pro161Ala
NR_104395.1:n.557C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,375,235 - 71,375,235CLINVAR
GRCh37X70,595,085 - 70,595,085CLINVAR
Cytogenetic MapXXq13.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698138
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2019-10-01
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.