Variant #0000806007 (NC_000013.10:g.108862343_108862347del, NM_002312.3:c.1271_1275del (LIG4))

Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.108862343_108862347del
DNA change (hg38) -
Published as LIG4(NM_001098268.1):c.1271_1275del (p.(Lys424ArgfsTer20)), LIG4(NM_001352599.1):c.1271_1275delAAAGA (p.K424Rfs*20), LIG4(NM_001352599.2):c.1271_12...
ISCN -
DB-ID LIG4_000004 See all 9 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2021-09-17 14:40:49 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LIG4 NM_002312.3 +/. - c.1271_1275del r.(?) p.(Lys424ArgfsTer20)


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