Variant #0000352304 (NC_000009.11:g.134381496dup, NC_000009.11(NM_007171.3):c.123-5dup (POMT1))

Individual ID 00152400
Chromosome 9
Allele Unknown
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.134381496dup
DNA change (hg38) g.131506109dup
Published as -
ISCN -
DB-ID POMT1_000052 See all 2 reported entries
Variant remarks -
Reference from website {DBsub-Emory}
ClinVar ID -
dbSNP ID rs10122068
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Madhuri Hegde
Database submission license No license selected
Created by Madhuri Hegde
Date created 2012-10-26 14:53:23 +02:00 (CEST)
Date last edited 2020-06-25 19:07:41 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT1 NM_007171.3 ?/. 2i c.123-5dup r.spl? p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153257 DNA SEQ - - POMT1 1 Madhuri Hegde


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