Variant #0000703767 (NC_000006.11:g.116757394A>G, DSE(NM_013352.2):c.1763A>G)

Individual ID 00319820
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.116757394A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID DSE_000004
Variant remarks -
Reference PubMed: Schirwani 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Raymond Dalgleish
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Raymond Dalgleish
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
DSE NM_013352.2 +?/+? 6 c.1763A>G r.? p.(His588Arg) missense substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000321001 DNA SEQ-NG;SEQ - - DSE 1 Raymond Dalgleish