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Variant : CV496737 (NM_147196.2(TMIE):c.361+11C>T) Homo sapiens

Symbol: CV496737
Name: NM_147196.2(TMIE):c.361+11C>T
Condition: not specified [RCV000611686]
Clinical Significance: likely benign
Last Evaluated: 02/07/2017
Review Status: criteria provided, single submitter
Related Genes: TMIE  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_147196.2:c.361+11C>T
NG_011628.1:g.12954C>T
NC_000003.12:g.46709286C>T
NC_000003.11:g.46750776C>T
NM_001370524.1:c.202+11C>T
NM_001370525.1:c.202+11C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,709,286 - 46,709,286CLINVAR
GRCh37346,750,776 - 46,750,776CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13538340
Created: 2018-05-08
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.