LOVD - Variant listings for MLYCD

About this overview [Show]

12 entries
entries per page


Exon Hide Exon column Descending
Ascending

Legacy DNA ID Hide Legacy DNA ID column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein change Hide Protein change column Descending
Ascending

RNA information Hide RNA information column Descending
Ascending

Protein information Hide Protein information column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Location Hide Location column Descending
Ascending

Base number Hide Base number column Descending
Ascending

5' Sequence Context Hide 5' Sequence Context column Descending
Ascending

Original Sequence Hide Original Sequence column Descending
Ascending

Variant Sequence Hide Variant Sequence column Descending
Ascending

3' Sequence Context Hide 3' Sequence Context column Descending
Ascending

Type Hide Type column Descending
Ascending

Domain Hide Domain column Descending
Ascending

Detection Method Hide Detection Method column Descending
Ascending

RE Site Hide RE Site column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending
01 c119T>C c119T>C - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Missense A.A. Substitution MLYCD_00001 Exon 119 ACCA T C GCGAG Transition n/a Direct Sequencing - -
01 c.8G>A c.8G>A - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Missense A.A. Substitution MLYCD_00003 Exon 8 CAGCTGC G A GGCCGAC Transition MTS Direct Sequencing - -
01 c.59insC c.59insC
  (Reported 2 times)
r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Insertion Premature Termination MLYCD_00005 Exon 59 GCGGTTGCCCCC - C GCGGCCG Insertion n/a Direct Sequencing - -
01 c.84-108del c.84-108del r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Deletion Premature Termination MLYCD_00004 Exon 84 GGCTGGCG - - GAGCGGGC Deletion n/a Direct Sequencing - -
01 c.206C>T c.206C>T - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Missense A.A. Substitution MLYCD_00009 Exon 206 CAGTGCG C T GGACTTC Transition n/a Direct Sequencing - -
01 c.393C>G c.393C>G - - RNA Frame Change: n/a ;RNA Splice Change: n/a;RNA Transcription Change: T2; RNA Sequence Change: Nonsense Premature Termination MLYCD_00010 Exon 393 TGCGCTA C G GCGCTGG Transversion n/a Direct Sequencing - -
01 c.473delG c.473delG r.? - RNA Frame Change: Frameshift ;RNA Splice Change: n/a;RNA Transcription Change: T2; RNA Sequence Change: Deletion Premature Termination MLYCD_00002 Exon 473 GCTGC G - GGCCG Deletion n/a Direct Sequencing - -
01 c.482T>C c.482T>C - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Unchanged A.A. Substitution MLYCD_00012 Exon 482 GGGCCGACC T C GCTGGAGG Transition n/a Direct Sequencing - -
02 c.560C>G c.560C>G - - RNA Frame Change: n/a ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Nonsense Premature Termination MLYCD_00013 Exon 560 AATGCTCT C G AGAATGGT Transversion n/a Direct Sequencing - -
02 c.634insA c.634insA
  (Reported 2 times)
r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Insertion Premature Termination MLYCD_00006 Exon 634 CTTCAGAAAA - A TCAGTGAGG Insertion n/a Direct Sequencing - -
04 IVS4-14A>G IVS4-14A>G r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Cryptic Site Activation;RNA Transcription Change: T2; RNA Sequence Change: Insertion Premature Termination MLYCD_00014 Intron 14 - A G - Transition n/a Direct Sequencing - -
05 c.1151-1159del c.1151-1159del - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Deletion Internal Deletion MLYCD_00011 Exon 1151 AGCAGCGAGT GGGTGCAGT - CGGAGAAGC Deletion n/a Direct Sequencing - -
1 - 12

Save Click here to save this list in a tab-delimited text file.

Legend: [ MLYCD 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. Legacy DNA ID: Legacy DNA ID 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 change: Variation at protein level. RNA information: RNA information Protein information: Protein Info MLYCD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Location: Variant location at DNA level. Base number: NucleotideNumber 5' Sequence Context: 5' sequence context Original Sequence: original sequence Variant Sequence: Variant Sequence 3' Sequence Context: 3' Sequence context Type: Type of variant at DNA level. Domain: Protein Domain Detection Method: Detection Method RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of polymorphism.