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LOVD - Variant listings for GPM6B

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7 entries
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Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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Re-site Hide Re-site column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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- NM_001001994.1:c.4+22593C>T - - - - GPM6B_00006
- NM_001001994.1:c.4+38793C>T - - - - GPM6B_00005
- NM_001001994.1:c.4+39672C>T - - - - GPM6B_00004
- NM_001001994.1:c.4+5771A>G - - - - GPM6B_00007
- NM_001001994.1:c.4+65279C>T - - - - GPM6B_00001
- NM_001001994.1:c.5-33G>A - - - - GPM6B_00003
- NM_001001994.1:c.5-46858G>A - - - - GPM6B_00002
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Legend: [ GPM6B full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. GPM6B DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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