Variant #0000352211 (NC_000009.11:g.134395562G>C, NM_007171.3:c.1746G>C (POMT1))

Individual ID 00152348
Chromosome 9
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.134395562G>C
DNA change (hg38) g.131520175G>C
Published as -
ISCN -
DB-ID POMT1_000017 See all 2 reported entries
Variant remarks -
Reference PubMed: van Reeuwijk 2006, PubMed: Manya 2008, PubMed: Messina 2008, PubMed: Mercuri 2009, OMIM:var0007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Rosário dos Santos
Database submission license No license selected
Created by Rosário dos Santos
Date created 2008-06-06 18:42:22 +02:00 (CEST)
Date last edited 2018-02-05 18:52:04 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT1 NM_007171.3 +/. 17 c.1746G>C r.(?) p.(Trp582Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153205 DNA SEQ - - POMT1 2 Rosário dos Santos


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