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Variant : CV446759 (NM_004606.4(TAF1):c.4376T>C (p.Leu1459Pro)) Homo sapiens

Symbol: CV446759
Name: NM_004606.4(TAF1):c.4376T>C (p.Leu1459Pro)
Condition: not provided [RCV000520293]
Clinical Significance: likely pathogenic
Last Evaluated: 10/19/2017
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): NC_000023.10:g.70627933T>C
NC_000023.11:g.71408083T>C
NG_012771.2:g.46820T>C
NP_004597.2:p.Leu1459Pro
NM_004606.4:c.4376T>C
NM_004606.3:c.4376T>C
NM_138923.3:c.4313T>C
NM_001286074.1:c.4376T>C
NR_104387.2:n.4334T>C
NR_104388.1:n.4452T>C
NR_104389.1:n.4452T>C
NR_104390.1:n.4452T>C
NR_104391.1:n.4452T>C
NR_104392.1:n.4452T>C
NR_104393.1:n.4452T>C
NR_104394.1:n.4452T>C
NR_104395.1:n.4452T>C
NP_620278.1:p.Leu1438Pro
NP_001273003.1:p.Leu1459Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,408,083 - 71,408,083CLINVAR
GRCh37X70,627,933 - 70,627,933CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13477040
Created: 2018-01-09
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.