Full data view for gene LIG1

Information The variants shown are described using the NM_000234.1 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-60A>G r.(?) p.(=) Unknown - likely benign g.48673500T>C - LIG1(NM_000234.3):c.-60A>G - LIG1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-43C>T r.(?) p.(=) Unknown - VUS g.48668866G>A - LIG1(NM_000234.3):c.-43C>T - LIG1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.71C>T r.(?) p.(Ala24Val) Unknown - benign g.48665555G>A g.48162298G>A LIG1(NM_001320970.1):c.71C>T (p.A24V) - LIG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108-5T>C r.spl? p.? Unknown - likely benign g.48664769A>G g.48161512A>G LIG1(NM_001289063.2):c.18-5T>C, LIG1(NM_001320970.1):c.108-5T>C - LIG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108-5T>C r.spl? p.? Unknown - likely benign g.48664769A>G - LIG1(NM_001289063.2):c.18-5T>C, LIG1(NM_001320970.1):c.108-5T>C - LIG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140C>T r.(?) p.(Ser47Phe) Unknown - likely benign g.48664732G>A g.48161475G>A LIG1(NM_000234.1):c.140C>T (p.S47F) - LIG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140C>T r.(?) p.(Ser47Phe) Unknown - likely benign g.48664732G>A - LIG1(NM_000234.1):c.140C>T (p.S47F) - LIG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>T r.(?) p.(Pro52Leu) Unknown - VUS g.48664717G>A g.48161460G>A LIG1(NM_001320970.1):c.155C>T (p.P52L) - LIG1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252C>T r.(?) p.(Ala84=) Unknown - likely benign g.48660389G>A g.48157132G>A LIG1(NM_001320970.1):c.252C>T (p.A84=) - LIG1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.324C>T r.(?) p.(Thr108=) Unknown - likely benign g.48660317G>A - LIG1(NM_001320970.1):c.324C>T (p.T108=) - LIG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391C>T r.(?) p.(Arg131Trp) Unknown - VUS g.48657204G>A - LIG1(NM_000234.3):c.391C>T (p.(Arg131Trp)) - LIG1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574+8T>G r.(=) p.(=) Unknown - likely benign g.48654481A>C - LIG1(NM_001320970.1):c.571+8T>G - LIG1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588G>A r.(?) p.(Pro196=) Unknown - likely benign g.48653454C>T - LIG1(NM_000234.1):c.588G>A (p.P196=) - LIG1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.655A>G r.(?) p.(Lys219Glu) Unknown - likely benign g.48653387T>C - LIG1(NM_001320970.1):c.652A>G (p.K218E) - LIG1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.777-16C>T r.(=) p.(=) Unknown - likely benign g.48647236G>A - LIG1(NM_000234.1):c.777-16C>T - LIG1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.777-4G>A r.spl? p.? Unknown - likely benign g.48647224C>T - LIG1(NM_001320970.1):c.774-4G>A - LIG1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.805G>A r.(?) p.(Ala269Thr) Unknown - VUS g.48647192C>T - LIG1(NM_000234.3):c.805G>A (p.A269T) - LIG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.914+15C>A r.(=) p.(=) Unknown - likely benign g.48646785G>T - LIG1(NM_000234.1):c.914+15C>A - LIG1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.954C>T r.(?) p.(Ser318=) Unknown - likely benign g.48643361G>A - LIG1(NM_000234.1):c.954C>T (p.S318=) - LIG1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.968C>T r.(?) p.(Ser323Leu) Unknown - likely benign g.48643347G>A - LIG1(NM_000234.1):c.968C>T (p.S323L) - LIG1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1003C>T r.(?) p.(Leu335Phe) Unknown - likely benign g.48643312G>A g.48140055G>A LIG1(NM_000234.3):c.1003C>T (p.L335F), LIG1(NM_001320970.2):c.1000C>T (p.L334F) - LIG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1003C>T r.(?) p.(Leu335Phe) Unknown - VUS g.48643312G>A - LIG1(NM_000234.3):c.1003C>T (p.L335F), LIG1(NM_001320970.2):c.1000C>T (p.L334F) - LIG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1045G>A r.(?) p.(Val349Met) Unknown - likely benign g.48643270C>T g.48140013C>T LIG1(NM_001320970.1):c.1042G>A (p.V348M), LIG1(NM_001320970.2):c.1042G>A (p.V348M) - LIG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1045G>A r.(?) p.(Val349Met) Unknown - VUS g.48643270C>T g.48140013C>T LIG1(NM_001320970.1):c.1042G>A (p.V348M), LIG1(NM_001320970.2):c.1042G>A (p.V348M) - LIG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1065C>G r.(?) p.(Leu355=) Unknown - likely benign g.48643250G>C - LIG1(NM_001320970.2):c.1062C>G (p.L354=) - LIG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1088-13C>T r.(=) p.(=) Unknown - likely benign g.48640958G>A - LIG1(NM_000234.1):c.1088-13C>T - LIG1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1091G>A r.(?) p.(Arg364Gln) Unknown - VUS g.48640942C>T g.48137685C>T LIG1(NM_001320970.1):c.1088G>A (p.R363Q) - LIG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1159C>T r.(?) p.(Arg387Cys) Unknown - VUS g.48640874G>A - - - LIG1_000033 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1167C>G r.(?) p.(Thr389=) Unknown - likely benign g.48640866G>C - LIG1(NM_001320970.1):c.1164C>G (p.T388=) - LIG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1225C>T r.(?) p.(Arg409Cys) Unknown - VUS g.48640808G>A g.48137551G>A LIG1(NM_001320970.1):c.1222C>T (p.R408C) - LIG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1226G>A r.(?) p.(Arg409His) Unknown - likely benign g.48640807C>T - LIG1(NM_000234.1):c.1226G>A (p.(Arg409His)) - LIG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1320G>A r.(?) p.(Arg440=) Unknown - likely benign g.48640276C>T g.48137019C>T LIG1(NM_001320970.1):c.1317G>A (p.R439=) - LIG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1331+6C>T r.(=) p.(=) Unknown - likely benign g.48640259G>A - LIG1(NM_001320970.1):c.1328+6C>T - LIG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1342G>A r.(?) p.(Gly448Arg) Unknown - VUS g.48639372C>T - - - LIG1_000032 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1342G>A r.(?) p.(Gly448Arg) Unknown - VUS g.48639372C>T - - - LIG1_000032 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1342G>A r.(?) p.(Gly448Arg) Unknown - VUS g.48639372C>T - - - LIG1_000032 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1342G>A r.(?) p.(Gly448Arg) Unknown - VUS g.48639372C>T - - - LIG1_000032 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1389C>G r.(?) p.(Leu463=) Unknown - likely benign g.48639325G>C - LIG1(NM_000234.1):c.1389C>G (p.L463=) - LIG1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1410G>A r.(?) p.(Thr470=) Unknown - likely benign g.48639304C>T - LIG1(NM_000234.3):c.1410G>A (p.T470=), LIG1(NM_001320970.1):c.1407G>A (p.T469=) - LIG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1410G>A r.(?) p.(Thr470=) Unknown - likely benign g.48639304C>T - LIG1(NM_000234.3):c.1410G>A (p.T470=), LIG1(NM_001320970.1):c.1407G>A (p.T469=) - LIG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1410G>T r.(?) p.(Thr470=) Unknown - likely benign g.48639304C>A g.48136047C>A LIG1(NM_001320970.2):c.1407G>T (p.T469=) - LIG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1516A>T r.(?) p.(Thr506Ser) Unknown - likely benign g.48638944T>A g.48135687T>A LIG1(NM_001320970.1):c.1513A>T (p.T505S) - LIG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1555G>T r.(?) p.(Val519Leu) Unknown - likely benign g.48637292C>A g.48134035C>A LIG1(NM_001320970.1):c.1552G>T (p.V518L) - LIG1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1569C>T r.(?) p.(His523=) Unknown - likely benign g.48637278G>A - LIG1(NM_001320970.1):c.1566C>T (p.H522=), LIG1(NM_001320970.2):c.1566C>T (p.H522=) - LIG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1569C>T r.(?) p.(His523=) Unknown - likely benign g.48637278G>A - LIG1(NM_001320970.1):c.1566C>T (p.H522=), LIG1(NM_001320970.2):c.1566C>T (p.H522=) - LIG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1570G>A r.(?) p.(Gly524Ser) Unknown - VUS g.48637277C>T g.48134020C>T LIG1(NM_001320970.1):c.1567G>A (p.G523S) - LIG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1610-16T>C r.(=) p.(=) Unknown - likely benign g.48636370A>G g.48133113A>G LIG1(NM_001320970.2):c.1607-16T>C - LIG1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1818C>T r.(?) p.(Pro606=) Unknown - likely benign g.48634336G>A g.48131079G>A LIG1(NM_001320970.1):c.1815C>T (p.P605=) - LIG1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1841C>T r.(?) p.(Thr614Ile) Unknown - benign g.48631258G>A - LIG1(NM_000234.1):c.1841C>T (p.T614I) - LIG1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1896C>G r.(?) p.(Ile632Met) Unknown - VUS g.48631203G>C g.48127946G>C LIG1(NM_001320970.1):c.1893C>G (p.I631M) - LIG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2014C>T r.(?) p.(Arg672Cys) Unknown - VUS g.48626566G>A g.48123309G>A LIG1(NM_000234.1):c.2014C>T (p.R672C) - LIG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2014C>T r.(?) p.(Arg672Cys) Unknown - likely benign g.48626566G>A - LIG1(NM_000234.1):c.2014C>T (p.R672C) - LIG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2047C>T r.(?) p.(Arg683Trp) Unknown - VUS g.48626533G>A g.48123276G>A LIG1(NM_001320970.1):c.2044C>T (p.R682W) - LIG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2151C>A r.(?) p.(Asp717Glu) Unknown - likely benign g.48626272G>T - LIG1(NM_000234.1):c.2151C>A (p.D717E) - LIG1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2290G>A r.(?) p.(Ala764Thr) Unknown - likely benign g.48624522C>T - LIG1(NM_000234.1):c.2290G>A (p.A764T) - LIG1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown - VUS g.48624510G>A - - - LIG1_000031 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.2344T>G r.(?) p.(Ser782Ala) Unknown - likely benign g.48624468A>C g.48121211A>C LIG1(NM_000234.1):c.2344T>G (p.S782A), LIG1(NM_001320970.1):c.2341T>G (p.S781A) - LIG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2344T>G r.(?) p.(Ser782Ala) Unknown - likely benign g.48624468A>C - LIG1(NM_000234.1):c.2344T>G (p.S782A), LIG1(NM_001320970.1):c.2341T>G (p.S781A) - LIG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2535G>T r.(?) p.(Lys845Asn) Unknown - VUS g.48620943C>A g.48117686C>A LIG1(NM_001320970.1):c.2532G>T (p.K844N) - LIG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2584-10G>A r.(=) p.(=) Unknown - likely benign g.48619232C>T g.48115975C>T LIG1(NM_001320970.1):c.2581-10G>A - LIG1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5143C>T r.(=) p.(=) Unknown - likely benign g.48613763G>A g.48110506G>A PLA2G4C(NM_001159322.1):c.10C>T (p.(Arg4Cys)) - LIG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.