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Variant : CV422514 (NM_004606.4(TAF1):c.1046_1051del (p.Ile349_Asp350del)) Homo sapiens

Symbol: CV422514
Name: NM_004606.4(TAF1):c.1046_1051del (p.Ile349_Asp350del)
Condition: not specified [RCV000492849]
Clinical Significance: uncertain significance
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: TAF1  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: clinical testing
HGVS Name(s): NP_004597.2:p.Ile349_Asp350del
NM_001286074.1:c.1046_1051del
NM_004606.4:c.1046_1051del
NM_138923.3:c.983_988del
NG_012771.2:g.17024_17029del
NR_104388.1:n.1122_1127del
NR_104389.1:n.1122_1127del
NC_000023.11:g.71378287_71378292del
NC_000023.10:g.70598137_70598142del
NR_104387.2:n.1004_1009del
NM_004606.3:c.1046_1051delTAGATA
NR_104390.1:n.1122_1127del
NR_104391.1:n.1122_1127del
NR_104392.1:n.1122_1127del
NR_104393.1:n.1122_1127del
NR_104394.1:n.1122_1127del
NR_104395.1:n.1122_1127del
NP_620278.1:p.Ile328_Asp329del
NP_001273003.1:p.Ile349_Asp350del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,378,287 - 71,378,292CLINVAR
GRCh37X70,598,137 - 70,598,142CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12912648
Created: 2017-07-11
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.