Variant #0000345687 (NC_000011.9:g.111957665G>A, SDHD(NM_003002.2):c.34G>A)

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.111957665G>A
DNA change (hg38) g.112086941G>A
Published as SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_003002.3):c.34G>A (p.G12S)
ISCN -
DB-ID SDHD_000011 See all 7 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00756 View details
Owner VKGL-NL_Nijmegen
Database submission license No license selected
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHD NM_003002.2 -/. - c.34G>A r.(?) p.(Gly12Ser) - -
TIMM8B NM_012459.2 -/. - c.-173C>T r.(?) p.(=) - -
C11orf57 NM_018195.3 -/. - c.*3969G>A r.(=) p.(=) - -