tradur

I did find these links with some help. http://www.ncbi.nlm.nih.gov/sites/varvu http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?showRare=on&chooseRs=all&locusId=5160&mrna=NM_000284.3&ctg=NT_167197.1&prot=NP_000275.1&orien=forward&refresh=refresh should there be a specific sequence record with every defect found? the finding was IVS8 31+15C>T for the pdha1 gene. Should the lab also be able to tell me which protein(s) it is refering to as well as the sequence record?

I'm trying to find out info on a pdha1 mutation located at intron 8 . I don't understand the genetics test and want to research it in detail. I was hoping a smart student or gentecis savy formum member could clue me in a bit. IVS8 31+15C>T was the finding when sequencing pdha1 gene. This relates to a baby who has an undiagnosed disorder(suspected mitochondial). It's the only genetic abnormality we've been able to find and virually the only clue we have for him. The doctors consider it a variant likely non pathogenic, but I am not so sure. His symptoms match perfectly for pdha1 mutation typical of pdhc deficiency. My goal is to try to find out more details on what the sequence of intron 8 relates to, such as what exons is tied to and what possible biochemical implications a mutation in ivs8 could cause. I'm not a med student but I'm an avid researcher and hope some of you might find an interest in lending me a hand to understand what this unknown variant could possibly be doing. Thanks feel free to email me also at tradur@charter.net tradur