Variant #0000299361 (NC_000005.9:g.223684G>A, SDHA(NM_004168.2):c.150+1G>A)

Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.223684G>A
DNA change (hg38) g.223569G>A
Published as SDHA(NM_004168.3):c.150+1G>A
ISCN -
DB-ID SDHA_000064
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) 1.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license No license selected
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHA NM_004168.2 +?/. - c.150+1G>A r.spl? p.? - -