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Variant : CV229094 (NM_147196.2(TMIE):c.247C>T (p.Pro83Ser)) Homo sapiens

Symbol: CV229094
Name: NM_147196.2(TMIE):c.247C>T (p.Pro83Ser)
Condition: not specified [RCV000223576]
Clinical Significance: uncertain significance
Last Evaluated: 01/29/2015
Review Status: criteria provided, single submitter
Related Genes: TMIE  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_147196.2:c.247C>T
NG_011628.1:g.12829C>T
NC_000003.12:g.46709161C>T
NC_000003.11:g.46750651C>T
NP_671729.2:p.Pro83Ser
NP_001357454.1:p.Pro30Ser
NM_001370524.1:c.88C>T
NM_001370525.1:c.88C>T
NP_001357453.1:p.Pro30Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,709,161 - 46,709,161CLINVAR
GRCh37346,750,651 - 46,750,651CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11096435
Created: 2016-06-07
Species: Homo sapiens
Last Modified: 2020-02-04
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.