Genomic variant #0000116372

Individual ID 00073098
Chromosome 5
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.223595A>G
DNA change (hg38) g.223480A>G
Published as -
ISCN -
DB-ID SDHA_000022 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Herma Renkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHA NM_004168.2 +/? 1i c.64-2A>G - r.[64_73del, r.63_64ins64-54_64-1;64-2a>g] p.(=) - -



Screenings

Stop! No screenings found!