Genomic variant #0000019346

Individual ID 00016903
Chromosome 1
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161293444C>G
Reference -
DB-ID SDHC_000009 See all 2 reported entries
dbSNP ID -
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00048
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SDHC NM_001035511.1 ./. - c.61C>G r.(?) p.(Gln21Glu)
SDHC NM_001035512.1 ./. - c.61C>G r.(?) p.(Gln21Glu)
SDHC NM_001035513.1 ./. - c.20+9229C>G r.(=) p.(=)
SDHC NM_001278172.1 ./. - c.61C>G r.(?) p.(Gln21Glu)
SDHC NM_003001.3 ./. - c.61C>G r.(?) p.(Gln21Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000651 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou