Variant #0000609685 (NC_000005.9:g.223624C>T, SDHA(NM_004168.2):c.91C>T)

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.223624C>T
DNA change (hg38) g.223509C>T
Published as SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*)
ISCN -
DB-ID SDHA_000013 See all 13 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) 0.0002 View details
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
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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.91C>T r.(?) p.(Arg31Ter) - -