Variant #0000352456 (NC_000014.8:g.77786863C>A, NM_013382.5:c.162G>T (POMT2))

Individual ID 00152502
Chromosome 14
Allele Unknown
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.77786863C>A
DNA change (hg38) g.77320520C>A
Published as -
ISCN -
DB-ID POMT2_000007 See all 4 reported entries
Variant remarks -
Reference from website {DBsub-Emory}
ClinVar ID -
dbSNP ID rs2270420
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0741 View details
Owner Madhuri Hegde
Database submission license No license selected
Created by Madhuri Hegde
Date created 2012-10-26 14:54:32 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 -/. 1 c.162G>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153359 DNA SEQ - - POMT2 1 Madhuri Hegde


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