SACGF / SACGF/variantgrid

Search - HGVS locus

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HGVS search
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Description

People often search for incomplete HGVS names which could be interpreted as a locus, eg:

NM_015120.4:c.4166
NM_016222.3:c.C1015T

Emma says people have searched for:

* p.(Arg212Cys)
* c.634
* NM_000492.3(CFTR) : c.1549
* CFTR p.arg75

No idea what they expected us to do with the first two but I guess the other 2 could take us to a locus

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James said:

If searching on p.hgvs or partial c.hgvs, we could always search for classifications that include those. It wont be particuluarily efficient, but it would only kick in when a certain pattern is matched. (I'd happily implement that bit when time permits), will leave locus searching to you.

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DML:

If you wanted to find classifications via "c.634" - I think it might be best to have an autocomplete of the Classification HGVSs?

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James:

Actually I retract my previous suggestion of searching classifications with partial c.hgvs/p.hgvs anyway. As in the case of environments that take imports p.hgvs is not always available - so there might be some classifications that should have a certain p.hgvs but instead have it blank.

If a user was then to search on the p.hgvs and not find any results that might fasly think we have no classifications for that protein.

Autocomplete for c.hgvs is best solution, but not an immediate priority.

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