Variant #0000720390 (NC_000005.9:g.223679A>G, SDHA(NM_004168.2):c.146A>G)

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.223679A>G
DNA change (hg38) -
Published as SDHA(NM_004168.3):c.146A>G (p.D49G)
ISCN -
DB-ID SDHA_000161
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) 0.00065 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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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.146A>G r.(?) p.(Asp49Gly) - -