Unique variants in gene COL5A3

Information The variants shown are described using the NM_015719.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.203G>T r.(?) p.(Gly68Val) - VUS g.10116793C>A - COL5A3(NM_015719.3):c.203G>T (p.G68V) - chr19_006567 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.453C>A r.(?) p.(Ala151=) - benign g.10116375G>T g.10005699G>T COL5A3(NM_015719.3):c.453C>A (p.A151=) - COL5A3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.676A>T r.(?) p.(Asn226Tyr) - benign g.10114740T>A g.10004064T>A COL5A3(NM_015719.3):c.676A>T (p.N226Y) - COL5A3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.838G>C r.(?) p.(Ala280Pro) - benign g.10114252C>G g.10003576C>G COL5A3(NM_015719.3):c.838G>C (p.A280P) - COL5A3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.964A>G r.(?) p.(Arg322Gly) - benign g.10112346T>C g.10001670T>C COL5A3(NM_015719.3):c.964A>G (p.R322G) - COL5A3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1159-13C>T r.(=) p.(=) - benign g.10108714G>A g.9998038G>A COL5A3(NM_015719.3):c.1159-13C>T - COL5A3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1425C>G r.(?) p.(Leu475=) - benign g.10106936G>C g.9996260G>C COL5A3(NM_015719.3):c.1425C>G (p.L475=) - COL5A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1893+4T>C r.spl? p.? - benign g.10102676A>G g.9992000A>G COL5A3(NM_015719.3):c.1893+4T>C - COL5A3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.2047-19G>T r.(=) p.(=) - benign g.10100061C>A g.9989385C>A COL5A3(NM_015719.3):c.2047-19G>T - COL5A3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.2146-11_2146-10dup r.(=) p.(=) - benign g.10097453_10097454dup g.9986777_9986778dup COL5A3(NM_015719.3):c.2146-11_2146-10dupTT - COL5A3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.2146-10del r.(=) p.(=) - benign g.10097454del g.9986778del COL5A3(NM_015719.3):c.2146-10delT - COL5A3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2270G>A r.(?) p.(Arg757Gln) - likely benign g.10097073C>T g.9986397C>T COL5A3(NM_015719.3):c.2270G>A (p.(Arg757Gln)) - COL5A3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2506-7dup r.(=) p.(=) - likely benign g.10091551dup g.9980875dup COL5A3(NM_015719.3):c.2506-7dupT - COL5A3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2807C>T r.(?) p.(Pro936Leu) - VUS g.10089875G>A g.9979199G>A COL5A3(NM_015719.3):c.2807C>T (p.(Pro936Leu)) - COL5A3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.3006C>T r.(?) p.(Pro1002=) - benign g.10089262G>A g.9978586G>A COL5A3(NM_015719.3):c.3006C>T (p.P1002=) - COL5A3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.3125G>C r.(?) p.(Arg1042Pro) - benign g.10088271C>G g.9977595C>G COL5A3(NM_015719.3):c.3125G>C (p.R1042P) - COL5A3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.3373C>T r.(?) p.(Pro1125Ser) - benign g.10085054G>A g.9974378G>A COL5A3(NM_015719.3):c.3373C>T (p.P1125S) - COL5A3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.3612+10G>A r.(=) p.(=) - benign g.10084422C>T g.9973746C>T COL5A3(NM_015719.3):c.3612+10G>A - COL5A3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.3620G>C r.(?) p.(Arg1207Pro) - benign g.10084292C>G g.9973616C>G COL5A3(NM_015719.3):c.3620G>C (p.R1207P) - COL5A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.4282G>A r.(?) p.(Val1428Met) - benign g.10079093C>T g.9968417C>T COL5A3(NM_015719.3):c.4282G>A (p.V1428M) - COL5A3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.4462G>C r.(?) p.(Ala1488Pro) - benign g.10077419C>G g.9966743C>G COL5A3(NM_015719.3):c.4462G>C (p.A1488P) - COL5A3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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