Variant #0000646799 (NC_000014.8:g.77769205A>G, NM_013382.5:c.629T>C (POMT2))

Individual ID 00289007
Chromosome 14
Allele Parent #1
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.77769205A>G
DNA change (hg38) g.77302862A>G
Published as -
ISCN -
DB-ID POMT2_000179
Variant remarks -
Reference PubMed: Punetha 2016
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/94 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00026 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 2020-02-24 21:34:22 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/. - c.629T>C r.(?) p.(Met210Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290175 DNA SEQ;SEQ-NG - gene panel POMT2 2 Johan den Dunnen


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