Variant #0000840119 (NC_000006.11:g.116758444T>A, DSE(NM_013352.2):c.2813T>A)

Individual ID 00403165
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.116758444T>A
DNA change (hg38) g.116437281T>A
Published as -
ISCN -
DB-ID DSE_000031 See all 5 reported entries
Variant remarks -
Reference PubMed: Ullah 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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 +?/. - c.2813T>A r.(?) p.(Val938Asp) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000404406 DNA SEQ - - DSE 1 Johan den Dunnen