Variant #0000719679 (NC_000004.11:g.107016622T>A, TBCK(NM_001163435.1):c.2571+17A>T)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.107016622T>A
DNA change (hg38) -
Published as TBCK(NM_001290768.2):c.2055+17A>T
ISCN -
DB-ID AIMP1_000023
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) 5.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIMP1 NM_001142415.1 -?/. - c.-220197T>A r.(?) p.(=)
TBCK NM_001163435.1 -?/. - c.2571+17A>T r.(=) p.(=)
AIMP1 NM_004757.3 -?/. - c.-220905T>A r.(?) p.(=)