Variant #0000983223 (NC_000019.9:g.13226504_13226505del, NM_001136035.2:c.389_390del (TRMT1))

Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.13226504_13226505del
DNA change (hg38) -
Published as TRMT1(NM_001136035.4):c.389_390del (p.(Lys130Argfs*3)), TRMT1(NM_017722.4):c.389_390delAA (p.K130Rfs*3), TRMT1(NM_017722.5):c.389_390delAA (p.K130...)
ISCN -
DB-ID TRMT1_000004 See all 4 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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:27:30 +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     
TRMT1 NM_001136035.2 +?/. - c.389_390del r.(?) p.(Lys130ArgfsTer3)
NACC1 NM_052876.3 +?/. - c.-2773_-2772del r.(?) p.(=)


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