Genomic variant #0000128290

Individual ID 00079394
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(161284216_161293403)_(161298288_161310383)del
DNA change (hg38) -
Published as c.20-? 180-?del
ISCN -
DB-ID SDHC_000065
Variant remarks Deletion of chromosome 3 & 4
Reference PubMed: Else
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 Jean-Pierre Bayley




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHC NM_003001.3 ?/. 1i_3i c(.20+1_21-1)_(179+1_180-1)del - r.(?) p.(Arg7_Tyr59del) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079467 DNA SEQ - - SDHC 1 Jean-Pierre Bayley