Variant #0000719686 (NC_000004.11:g.107249347dup, TBCK(NM_001163435.1):c.-12289dup)

Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.107249347dup
DNA change (hg38) -
Published as AIMP1(NM_004757.3):c.338dupT (p.G115Rfs*14)
ISCN -
DB-ID AIMP1_000029
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIMP1 NM_001142415.1 ?/. - c.338dup r.(?) p.(Gly115Argfs*14)
TBCK NM_001163435.1 ?/. - c.-12289dup r.(?) p.(=)
AIMP1 NM_004757.3 ?/. - c.338dup r.(?) p.(Gly115Argfs*14)