Variant #0000609684 (NC_000005.9:g.223595A>G, SDHA(NM_004168.2):c.64-2A>G)

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.223595A>G
DNA change (hg38) g.223480A>G
Published as SDHA(NM_004168.3):c.64-2A>G
ISCN -
DB-ID SDHA_000022 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license No license selected
Created by VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHA NM_004168.2 +/. - c.64-2A>G r.spl? p.? - -