Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:

Currentness:

MLL2 P2382S

(MLL2 Pro2382Ser)

Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

A @ chr12:49434409: 0.4% (37/10158) in EVS
A @ chr12:47720675: 1.6% (2/128) in GET-Evidence
Frequency shown in summary reports: 0.4% (37/10158)

Publications

Genomes

Other external references

dbSNP

rs3741626
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses

NBLOSUM100 score = 3
GET-Evidence autoscore = 1

Edit history

Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added variant view

Gene search

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