LOVD - Variant listings for COL5A1

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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42 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

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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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
Ascending
01 c.66G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00069
03 c.278C>T dbSNP Substitution Missense p.(Ala93Val) - - - COL5A1_00070
04 c.514G>T - Substitution Missense p.Val172Phe - - - COL5A1_00204
04 c.574G>A - Substitution Missense p.(Asp192Asn) - - - COL5A1_00053
05 c.738C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00055
07 c.1062C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00071
07 c.1092C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00054
07 c.1115C>A - Substitution Missense p.(Ala372Asp) - - - COL5A1_00192
07 c.1158C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00072
09 c.1383C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00073
10 c.1431G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00074
12 c.1566G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00075
13 c.1588G>A
  (Reported 7 times)
dbSNP Substitution Missense p.(Gly530Ser) - - - COL5A1_00026
20 c.2031G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00076
33 c.2724G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00078
36 c.2852A>G dbSNP Substitution Missense p.(Asn951Ser) - - - COL5A1_00079
36 c.2892C>T - Substitution Silent p.(=) - - - COL5A1_00056
48 c.3746delG dbSNP Deletion Frameshift p.(Gly1249Alafs*27) - - - COL5A1_00080
51 c.4065C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00081
52 c.4122G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00082
53 c.4135C>T dbSNP Substitution Missense p.(Pro1379Ser) - - - COL5A1_00083
53 c.4162C>T dbSNP Substitution Missense p.(Pro1388Ser) - - - COL5A1_00084
57 c.4409C>T dbSNP Substitution Silent p.(Pro1470Leu) - - - COL5A1_00085
58 c.4482G>A - Substitution Silent p.(=) - - - COL5A1_00058
58 c.4482G>C dbSNP Substitution Silent p.(=) - - - COL5A1_00057
59 c.4560C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00086
61 c.4692C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00087
64 c.5116G>C dbSNP Substitution Missense p.(Glu1706Gln) - - - COL5A1_00088
64 c.5118A>G dbSNP Substitution Silent p.(=) - - - COL5A1_00089
64 c.5120T>A dbSNP Substitution Missense p.(Phe1707Tyr) - - - COL5A1_00090
64 c.5127T>G dbSNP Substitution Silent p.(=) - - - COL5A1_00091
65 c.5151C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00092
65 c.5190C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00094
65 c.5270C>T dbSNP Substitution Missense p.(Thr1757Met) - - - COL5A1_00095
66 c.5407G>A dbSNP Substitution Missense p.(Asp1803Asn) - - - COL5A1_00096
66 c.*83C>T - Substitution Other - - - - COL5A1_00059
66 c.*267C>T dbSNP Substitution Other - - - - COL5A1_00060
66 c.*311C>T - Substitution Other - - - - COL5A1_00061
66 c.*733C>A - Substitution Other - - - - COL5A1_00062
66 c.*894T>C - Substitution Other - - - - COL5A1_00063
66 c.*2395G>T - Substitution Other - - - - COL5A1_00064
66 c.*2501T>C dbSNP Substitution Other - - - - COL5A1_00065
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Legend: [ COL5A1 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. COL5A1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.