Variant #0000352400 (NC_000014.8:g.77787070_77787073del, NM_013382.5:c.-47_-44del (POMT2))

Individual ID 00152471
Chromosome 14
Allele Paternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.77787070_77787073del
DNA change (hg38) g.77320727_77320730del
Published as 1-46_49delCAGA
ISCN -
DB-ID POMT2_000041 See all 2 reported entries
Variant remarks -
Reference PubMed: Manya 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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 2008-02-08 10:20:36 +01:00 (CET)
Date last edited 2020-07-05 16:20:40 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 -/. 1 c.-47_-44del r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153328 DNA;RNA RT-PCR;SEQ - - POMT2 3 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.