Genomic variant #0000150746

Individual ID 00092280
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.161284201del
DNA change (hg38) g.161314411del
Published as -
ISCN -
DB-ID SDHC_000063 See all 2 reported entries
Variant remarks SDHB IHC Neg, SDHA IHC Pos. Carney triad with ganglioneuroma
Reference PubMed: Boikos
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 +?/+? - c.6del - r.(?) p.(Ala3Argfs*4) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000092420 DNA SEQ - - SDHC 1 Jean-Pierre Bayley