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Variant : CV247034 (NM_033105.6(DNAJC5B):c.427G>T (p.Glu143Ter)) Homo sapiens

Symbol: CV247034
Name: NM_033105.6(DNAJC5B):c.427G>T (p.Glu143Ter)
Condition: not specified [RCV000239175]
Clinical Significance: uncertain significance
Last Evaluated: 10/16/2015
Review Status: criteria provided, single submitter
Related Genes: DNAJC5B  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.66080470G>T
NC_000008.10:g.66992705G>T
NP_149096.2:p.Glu143Ter
NM_001349432.1:c.427G>T
NM_033105.4:c.427G>T
NP_001336361.1:p.Glu143Ter
NG_053039.1:g.70488G>T
NM_033105.6:c.427G>T
NR_146171.1:n.2273G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38866,080,470 - 66,080,470CLINVAR
GRCh37866,992,705 - 66,992,705CLINVAR
Cytogenetic Map88q13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11525989
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.