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The PLOD1 mutation data have been added to a new database.

LOVD - Variant listings for PLOD1

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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9 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
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dbSNP Hide dbSNP column Descending
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Type Hide Type column Descending
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Mutation Effect Hide Mutation Effect column Descending
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Protein Hide Protein column Descending
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RNA change Hide RNA change column Descending
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Re-site Hide Re-site column Descending
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DB-ID Hide DB-ID column Descending
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Frequency Hide Frequency column Descending
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03 c.294C>T dbSNP Substitution Silent p.(=) - +HpyCH4V PLOD1_00028 -
03 c.295G>A
  (Reported 2 times)
dbSNP Substitution Missense p.(Ala99Thr) - - PLOD1_00022 -
04 c.358G>T dbSNP Substitution Missense p.(Ala120Ser) - +Hpy188I PLOD1_00030 -
06i c.644-17T>G dbSNP Substitution Silent p.(=) - -HpyCH4III PLOD1_00025 -
07 c.741G>A - Substitution Silent - - - PLOD1_00053 -
10i c.1098-8C>T - Substitution Splice site - - - PLOD1_00055 -
12 c.1206C>T dbSNP Substitution Silent p.(=) - -HpyCH4IV PLOD1_00026 -
13i c.1471-8C>T dbSNP Substitution Splice site - - - PLOD1_00060 -
15 c.1632A>C dbSNP Substitution Silent p.(=) - +EaeI,+BssKI PLOD1_00027 -
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Legend: [ PLOD1 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. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation Effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. PLOD1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Frequency: Frequency if variant is non pathogenic.