Variant #0000542359 (NC_000011.9:g.111958581C>T, SDHD(NM_003002.2):c.53C>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.111958581C>T
DNA change (hg38) g.112087857C>T
Published as SDHD(NM_001276506.1):c.53C>T (p.A18V), SDHD(NM_003002.3):c.53C>T (p.A18V)
ISCN -
DB-ID SDHD_000173 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
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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.53C>T r.(?) p.(Ala18Val) - -
TIMM8B NM_012459.2 -?/. - c.-1089G>A r.(?) p.(=) - -
C11orf57 NM_018195.3 -?/. - c.*4885C>T r.(=) p.(=) - -