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Variant : CV422515 (NM_004606.4(TAF1):c.4033G>A (p.Val1345Ile)) Homo sapiens

Symbol: CV422515
Name: NM_004606.4(TAF1):c.4033G>A (p.Val1345Ile)
Condition: not provided [RCV000492896]
Clinical Significance: likely pathogenic
Last Evaluated: 09/08/2016
Review Status: criteria provided, single submitter|no assertion criteria provided
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.4033G>A
NG_012771.2:g.40451G>A
NC_000023.11:g.71401714G>A
NC_000023.10:g.70621564G>A
NM_004606.3:c.4033G>A
NP_004597.2:p.Val1345Ile
NM_138923.3:c.3970G>A
NM_001286074.1:c.4033G>A
NR_104387.2:n.3991G>A
NR_104388.1:n.4109G>A
NR_104389.1:n.4109G>A
NR_104390.1:n.4109G>A
NR_104391.1:n.4109G>A
NR_104392.1:n.4109G>A
NR_104393.1:n.4109G>A
NR_104394.1:n.4109G>A
NR_104395.1:n.4109G>A
NP_620278.1:p.Val1324Ile
NP_001273003.1:p.Val1345Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,401,714 - 71,401,714CLINVAR
GRCh37X70,621,564 - 70,621,564CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12912684
Created: 2017-07-11
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.