LOVD - Variant listings for KL

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5 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
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Re-site Hide Re-site column Descending
Ascending

Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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- NM_004795.3:c.820-14772G>A - - - - KL_00003
- NM_004795.3:c.820-17193T>C - - - - KL_00002
- NM_004795.3:c.820-17753T>G - - - - KL_00001
02 NM_004795.3:c.1109G>C NM_004795.3:c.1109G>C NP_004786.2:p.C370S - - KL_00004
04 NM_004795.3:c.2247T>C NM_004795.3:c.2247T>C - - - KL_00005
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Legend: [ KL 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. KL DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.