LOVD - Variant listings for ADAMTS2

About this overview [Show]

11 entries
entries per page

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

dbSNP Hide dbSNP column Descending
Ascending

Type Hide Type column Descending
Ascending

Mutation Effect Hide Mutation Effect column Descending
Ascending

Protein Hide Protein column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending
01 c.2T>C - Substitution Initiating methionine p.? - - - ADAMTS2_00008
03 c.535-?_688+?del - Deletion Exon deletion p.(Ala179Glyfs*17) - - - ADAMTS2_00005
03_05 c.535-?_975+?del
  (Reported 2 times)
- Deletion Multi-exon deletion p.(Ala179_Lys325del) - - - ADAMTS2_00003
03 c.673C>T
  (Reported 12 times)
- Substitution Nonsense p.(Gln225*) - - - ADAMTS2_00002
04 c.669_670dupG
  (Reported 2 times)
- Duplication Frameshift p.(Pro224Argfs*24) - - - ADAMTS2_00010
04 c.884_887del - Deletion Frameshift p.(Met295Thrfs*26) - - - ADAMTS2_00009
14_16 c.2085+1422_2458-478delinsTCC - Insertion/Deletion Multi-exon deletion - - - - ADAMTS2_00004
16 c.2384G>A
  (Reported 2 times)
- Substitution Nonsense p.(Trp795*) - - - ADAMTS2_00001
17 c.2458-6_2458del
  (Reported 2 times)
- Deletion Exon skip - - - - ADAMTS2_00006
19 c.2751-2A>T
  (Reported 2 times)
- Substitution Splice site - - - - ADAMTS2_00011
19 c.2927_2928del
  (Reported 2 times)
- Deletion Frameshift p.(Pro976Argfs42*) - - - ADAMTS2_00007
1 - 11

Legend: [ ADAMTS2 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. Frequency: Frequency if variant is non pathogenic. ADAMTS2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.