Genomic variant #0000525501

Chromosome 5
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.218480G>A
DNA change (hg38) -
Published as SDHA(NM_004168.3):c.10G>A (p.V4I)
ISCN -
DB-ID CCDC127_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHA NM_004168.2 -?/. - c.10G>A likely benign r.(?) p.(Val4Ile) - -
CCDC127 NM_145265.2 -?/. - c.-283C>T likely benign r.(?) p.(=) - -