User: bdolin

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bdolin0
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Posts by bdolin

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Answer: A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
... Right, but isn't "c.6429+?_6430-?inv" only referring to ONE end of the inversion? It seems to be saying that one end of the inversion is upstream of position 6429 and downstream of position 6430 (i.e. in intron 22). So, you'd need to say something about the other end - perhaps just "1-?" if you know ...
written 7 hours ago by bdolin0
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Answer: A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
... Thank you for your response. I also heard back from a member of the LOVD team, and here is their response: "*the descriptions c.6429+?_6430-?inv and c.6429+?_6430-?h-2inv do not follow current HGVS recommendations. In the F8 gene variant database there is one description of a sequenced F8 inversio ...
written 1 day ago by bdolin0
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Answer: A: ClinVar vs. dbSNP/dbVAR
... I think I may have answered my own question - I think I found a ClinVar record for which there is neither a dbSNP nor a dbVAR record - see ClinVar 10150 (Hemophilia A, intron 22 inversion mutation) ...
written 4 days ago by bdolin0
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What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
... Greetings, I'm a bit new to HGVS, but something seems wrong here. The CDC Hemophilia Mutation Project (CHAMP & CHBMP) site [https://www.cdc.gov/ncbddd/hemophilia/champs.html] contains a spreadsheet which includes HGVS strings for the Hemophilia A intron 22 inversion mutation: c.6429+?_6430-?h ...
genome gene written 4 days ago by bdolin0
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ClinVar vs. dbSNP/dbVAR
... Greetings, Is it the case that ALL variants in ClinVar are in dbSNP or dbVAR as well? Thanks! ...
snp written 11 days ago by bdolin0

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