Variant #0000299375 (NC_000005.9:g.228467_228471del, SDHA(NM_004168.2):c.770+19_770+23del)

Chromosome 5
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.228467_228471del
DNA change (hg38) g.228352_228356del
Published as SDHA(NM_004168.3):c.770+19_770+23delCTTTA
ISCN -
DB-ID SDHA_000082
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license No license selected
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHA NM_004168.2 -?/. - c.770+19_770+23del r.(=) p.(=) - -