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Variant : CV380118 (NM_004606.4(TAF1):c.488C>T (p.Pro163Leu)) Homo sapiens

Symbol: CV380118
Name: NM_004606.4(TAF1):c.488C>T (p.Pro163Leu)
Condition: not provided [RCV000427808]
Clinical Significance: likely pathogenic
Last Evaluated: 11/15/2016
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_004606.4:c.488C>T
NG_012771.2:g.13979C>T
NC_000023.11:g.71375242C>T
NC_000023.10:g.70595092C>T
NM_004606.3:c.488C>T
NP_004597.2:p.Pro163Leu
NR_104395.1:n.564C>T
NP_620278.1:p.Pro163Leu
NM_001286074.1:c.488C>T
NM_138923.3:c.488C>T
NR_104387.2:n.446C>T
NR_104388.1:n.564C>T
NR_104389.1:n.564C>T
NR_104390.1:n.564C>T
NR_104391.1:n.564C>T
NR_104392.1:n.564C>T
NR_104393.1:n.564C>T
NR_104394.1:n.564C>T
NP_001273003.1:p.Pro163Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,375,242 - 71,375,242CLINVAR
GRCh37X70,595,092 - 70,595,092CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12849313
Created: 2017-04-11
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.