LOVD - Variant listings for COL5A2

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

About this overview [Show]

25 entries
entries per page

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

dbSNP Hide dbSNP column Descending
Ascending

Legacy DNA change Hide Legacy DNA change 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
g.4841G>A - M58529:g.805A>G Substitution Other - - - - COL5A2_00015
02 c.315A>C dbSNP - Substitution Silent p.(=) - - - COL5A2_00020
21 c.1311G>A dbSNP - Substitution Silent p.(=) - - - COL5A2_00021
21 c.1378C>T dbSNP - Substitution Missense p.(Pro460Ser) - - - COL5A2_00022
21i c.1402-10T>G - - Substitution Splice site - - - - COL5A2_00053
23 c.1535T>C - - Substitution Missense p.(Val512Ala) - - - COL5A2_00007
27 c.1838G>C dbSNP - Substitution Missense p.(Ser613Thr) - - - COL5A2_00023
27 c.1868G>A dbSNP - Substitution Missense p.(Ser623Asn) - - - COL5A2_00024
28 c.1903G>C dbSNP - Substitution Missense p.(Ala635Pro) - - - COL5A2_00025
28 c.1920G>A dbSNP - Substitution Silent p.(=) - - - COL5A2_00026
34 c.2263A>C dbSNP - Substitution Missense p.(Thr755Pro) - - - COL5A2_00027
35 c.2376A>C dbSNP - Substitution Silent p.(=) - - - COL5A2_00028
37 c.2498C>T - - Substitution Missense p.(Pro833Leu) - - - COL5A2_00018
42 c.2867G>C dbSNP - Substitution Missense p.(Arg956Pro) - - - COL5A2_00031
48 c.3411C>T dbSNP - Substitution Silent p.(=) - - - COL5A2_00034
51 c.3689C>G - - Substitution Missense p.(Thr1230Arg) - - - COL5A2_00003
51 c.3690A>C - - Substitution Silent p.(=) - - - COL5A2_00010
51 c.3720T>C - - Substitution Silent p.(=) - - - COL5A2_00011
52 c.3969A>C dbSNP - Substitution Silent p.(=) - - - COL5A2_00035
53 c.4240G>A - - Substitution Missense p.(Asp1414Asn) - - - COL5A2_00012
53 c.4295A>T - - Substitution Missense p.(Asp1432Val) - - - COL5A2_00009
54 c.4362T>A - - Substitution Missense p.(Asn1454Lys) - - - COL5A2_00058
54 c.4453A>T dbSNP - Substitution Missense p.(Thr1485Ser) - - - COL5A2_00036
54 c.4468G>A - - Substitution Missense p.(Gly1490Ser) - - - COL5A2_00056
54 c.*298G>A - - Substitution Other - - - - COL5A2_00013
1 - 25

Legend: [ COL5A2 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 Legacy DNA change: Legacy DNA change 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. COL5A2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.