Variant #0000352432 (NC_000014.8:g.77786772C>G, NC_000014.8(NM_013382.5):c.248+5G>C (POMT2))

Individual ID 00152488
Chromosome 14
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.77786772C>G
DNA change (hg38) g.77320429C>G
Published as -
ISCN -
DB-ID POMT2_000062
Variant remarks -
Reference PubMed: Yanagisawa 2009
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-02-27 14:46:24 +01:00 (CET)
Date last edited 2012-11-02 20:43:02 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 +/. 1i c.248+5G>C r.[248_249ins248+1_248+72; 248+5g>c] p.Cys83Trpfs*2



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153345 DNA;RNA RT-PCR;SEQ - - POMT2 2 Rosário dos Santos


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