Variant #0000917192 (NC_000014.8:g.77786877G>C, NM_013382.5:c.148C>G (POMT2))

Individual ID 00430482
Chromosome 14
Allele Maternal (confirmed)
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.77786877G>C
DNA change (hg38) g.77320534G>C
Published as -
ISCN -
DB-ID POMT2_000092 See all 3 reported entries
Variant remarks -
Reference PubMed: Cavdarli 2023
ClinVar ID -
dbSNP ID rs550420394
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-01-20 11:39:52 +01:00 (CET)
Date last edited 2023-10-21 15:09:57 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/. - c.148C>G r.(?) p.(Arg50Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000431891 DNA SEQ;SEQ-NG - gene panel - 2 Johan den Dunnen


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