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Variant : CV57120 (NM_147196.2(TMIE):c.102G>A (p.Thr34=)) Homo sapiens

Symbol: CV57120
Name: NM_147196.2(TMIE):c.102G>A (p.Thr34=)
Condition: AllHighlyPenetrant [RCV000041228]|not provided [RCV000902784]|not specified [RCV000041228]
Clinical Significance: likely benign
Last Evaluated: 11/09/2017
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: TMIE  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_147196.2:c.102G>A
NG_011628.1:g.9466G>A
NC_000003.12:g.46705798G>A
NC_000003.11:g.46747288G>A
NP_671729.2:p.Thr34=
c.102G>A
p.Thr34Thr
NM_001370525.1:c.-58G>A
NM_001370524.1:c.-58G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,705,798 - 46,705,798CLINVAR
GRCh37346,747,288 - 46,747,288CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8610822
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.