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Variant : CV622003 (NM_004606.4(TAF1):c.4372C>T (p.Arg1458Cys)) Homo sapiens

Symbol: CV622003
Name: NM_004606.4(TAF1):c.4372C>T (p.Arg1458Cys)
Condition: not provided [RCV000782064]
Clinical Significance: uncertain significance
Last Evaluated: 11/09/2018
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_138923.3:c.4309C>T
NR_104387.2:n.4330C>T
NM_001286074.1:c.4372C>T
NM_004606.4:c.4372C>T
NG_012771.2:g.46816C>T
NP_004597.2:p.Arg1458Cys
NC_000023.10:g.70627929C>T
NP_001273003.1:p.Arg1458Cys
NC_000023.11:g.71408079C>T
NR_104392.1:n.4448C>T
NR_104394.1:n.4448C>T
NR_104395.1:n.4448C>T
NP_620278.1:p.Arg1437Cys
NR_104388.1:n.4448C>T
NR_104389.1:n.4448C>T
NR_104390.1:n.4448C>T
NR_104391.1:n.4448C>T
NR_104393.1:n.4448C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,408,079 - 71,408,079CLINVAR
GRCh37X70,627,929 - 70,627,929CLINVAR
Cytogenetic MapXXq13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14691327
Created: 2019-06-11
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.