Variant #0000352458 (NC_000014.8:g.77772829A>G, NC_000014.8(NM_013382.5):c.334-45T>C (POMT2))

Individual ID 00152504
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.77772829A>G
DNA change (hg38) g.77306486A>G
Published as -
ISCN -
DB-ID POMT2_000049 See all 2 reported entries
Variant remarks -
Reference from website {DBsub-Emory}
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.10502 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 -/. 2i c.334-45T>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153361 DNA SEQ - - POMT2 1 Madhuri Hegde


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