pattismith
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and the last is as much conserved...https://www.mitomap.org/mitomaster/...s&query_id=1195068&run_id=1123659&submitnew=1
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Would you explain to me how to browse my mito mutation in the mitomap query, I was not able to do it myself
For those following along, you go to Mitomaster for the SNV query.
https://www.mitomap.org/mitomaster/index_snvs.cgi
For Mitochondrial Mutations, enter the Ref Seq, the chromosome position, and the Var Seq.
On @pattismith above from Enlis, it looked like M:3,377 A G
I entered in Mitomaster A3377G
so here are my results for mito variations:
1)MT-CYB rs3088309 ....but it has been merged into rs527236209 Likely pathogenic. Ovarian cancer.
2)MT ND5 rs28359178 . leber's optic atrophy.NADH dehydrogenase (complex 1)
the association with Leber Optic Atrophy remain uncertain, so nothing sure .No ....I found them last nite & not sure who I would reach out to .....plus are you sure they have been associated w/disease? Need to check on that.
so here are my results for mito variations:
1)MT-CYB rs3088309 ....but it has been merged into rs527236209 Likely pathogenic. Ovarian cancer.
2)MT ND5 rs28359178 . leber's optic atrophy.NADH dehydrogenase (complex 1)
Ok, thanks for the heads up.
Can you say who did your whole genome testing? $?
Actually, since you are here, can I pick your brain about a missense mutation that showed up?
G1801394G MTRR missense...
any thoughts on that one...
Ok, thanks for the heads up.
Can you say who did your whole genome testing? $?