LOVD - Variant listings for COL5A2

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53 entries
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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
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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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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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g.4841G>A - M58529:g.805A>G Substitution Other - - - - COL5A2_00015
02 c.315A>C dbSNP - Substitution Silent p.(=) - - - COL5A2_00020
12i c.852+1G>C - - Substitution Splice site - - - - COL5A2_00050
14i c.960+1G>A - - Substitution Splice site - - - - COL5A2_00046
15i c.1006-2A>G - - Substitution Splice site p.(Gly336_Pro353del) - - - COL5A2_00037
16i c.1059+2T>A - - Substitution Splice site p.(Gly336_Pro353del) - - - COL5A2_00038
19 c.1186G>C - - Substitution Missense p.(Gly396Arg) - - - COL5A2_00039
21 c.1311G>A dbSNP - Substitution Silent p.(=) - - - COL5A2_00021
21 c.1378C>T dbSNP - Substitution Missense p.(Pro460Ser) - - - COL5A2_00022
21 c.1401G>A - - Substitution Splice site p.(Gly435_Pro467del) r.1402_1455del - - COL5A2_00041
21i c.1402-10T>G - - Substitution Splice site - - - - COL5A2_00053
23 c.1535T>C - - Substitution Missense p.(Val512Ala) - - - COL5A2_00007
24i c.1617+4A>G - NM_000393.2:c.1608+4A>G Substitution Splice site - - - - COL5A2_00019
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
28i c.1924-11T>C - - Substitution Splice site - - - - COL5A2_00051
28i c.1924-2_1928del - - Deletion Splice site - - - - COL5A2_00004
29 c.1933G>A - - Substitution Missense p.(Gly645Arg) - - - COL5A2_00040
29 c.1947A>G - - Substitution Exon skip p.(Gly642_Pro659del) - - - COL5A2_00042
29 c.1977G>A - - Substitution Exon skip p.(Gly642_Pro659del) - - - COL5A2_00048
30i c.2031+1G>T - - Substitution Splice site - - - - COL5A2_00005
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
37i c.2499+2T>C - - Substitution Exon skip p.(Gly816_Pro833del) - - - COL5A2_00047
38i c.2553+2delT - NM_000393.2:c.2544+2delT Deletion Splice site - - - - COL5A2_00016
42 c.2861dupG dbSNP - Duplication Frameshift p.(Asp955Argfs*74) - - - COL5A2_00029
42 c.2867G>C dbSNP - Substitution Missense p.(Arg956Pro) - - - COL5A2_00031
43i c.3040-2A>G - - Substitution Splice site p.(Gly1014_Glu1049del) - - - COL5A2_00043
44 c.3054dupA dbSNP - Duplication Frameshift p.(Val1019Serfs*10) - - - COL5A2_00032
44 c.3104_3109del - - Deletion In-frame deletion/insertion p.(Gly1035_Pro1037delinsAla) - - - COL5A2_00044
44i c.3148-2A>G - NM_000393.2:c.3139-2A>G Substitution Splice site - - - - COL5A2_00017
47 c.3348dupG dbSNP - Duplication Frameshift p.(Lys1117Glufs*13) - - - COL5A2_00033
48 c.3411C>T dbSNP - Substitution Silent p.(=) - - - COL5A2_00034
48 c.3437G>C - - Substitution Missense p.(Gly1146Ala) - - - COL5A2_00001
48 c.3445G>C - - Substitution Missense p.(Gly1149Arg) - - - COL5A2_00006
48 c.3445G>T - - Substitution Missense p.(Gly1149Cys) - - - COL5A2_00055
50 c.3526G>C - - Substitution Missense p.(Gly1176Arg) - - - COL5A2_00049
50 c.3625G>A - - Substitution Missense p.(Gly1209Arg) - - - COL5A2_00045
51 c.3644G>T - - Substitution Missense p.Gly1215Val - - - COL5A2_00059
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
53 c.4298delT - NM_000393.2:c.4289delT Deletion Frameshift p.(Ile1433Thrfs*43) - - - COL5A2_00014
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
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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.