Variant #0000048429 (NC_000006.11:g.18155368_18155454=, NM_000367.2:c.-235_-149= (TPMT))

Individual ID 00025515
Chromosome 6
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.18155368_18155454=
DNA change (hg38) g.18155137_18155223=
Published as 6 repeat units
ISCN -
DB-ID TPMT_000000 See all 4 reported entries
Variant remarks larger repeats have small negative effect on promoter activity
Reference PubMed: Yan 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 25/558 chromosomes
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-09-23 20:52:13 +02:00 (CEST)
Date last edited 2013-01-05 10:05:43 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TPMT NM_000367.2 ?/. _1 c.-235_-149= TPMT*V6 r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025519 DNA PCR;SEQ - - TPMT 7 Johan den Dunnen


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