Variant #0000352639 (NC_000022.10:g.34022329G>A, LARGE(NM_004737.4):c.409-19C>T)

Individual ID 00152642
Chromosome 22
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.34022329G>A
DNA change (hg38) g.33626345G>A
Published as -
ISCN -
DB-ID LARGE_000022 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00025 View details
Owner Tom Winder
Database submission license No license selected
Created by Tom Winder
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARGE NM_004737.4 -?/. 4i c.409-19C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153500 DNA SEQ - - LARGE 1 Tom Winder