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Variant : CV613278 (NM_004606.4(TAF1):c.54C>T (p.Ala18=)) Homo sapiens

Symbol: CV613278
Name: NM_004606.4(TAF1):c.54C>T (p.Ala18=)
Condition: not provided [RCV000762651]
Clinical Significance: likely benign
Last Evaluated: 09/30/2018
Review Status: criteria provided, single submitter
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NR_104395.1:n.130C>T
NP_001273003.1:p.Ala18=
NM_004606.4:c.54C>T
NG_012771.2:g.5105C>T
NC_000023.11:g.71366368C>T
NP_004597.2:p.Ala18=
NC_000023.10:g.70586218C>T
NM_001286074.1:c.54C>T
NM_138923.3:c.54C>T
NR_104391.1:n.130C>T
NR_104392.1:n.130C>T
NR_104393.1:n.130C>T
NR_104394.1:n.130C>T
NP_620278.1:p.Ala18=
NR_104387.2:n.12C>T
NR_104388.1:n.130C>T
NR_104389.1:n.130C>T
NR_104390.1:n.130C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,366,368 - 71,366,368CLINVAR
GRCh37X70,586,218 - 70,586,218CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14397381
Created: 2019-04-09
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.