Variant #0000254047 (NC_000011.9:g.111958677A>G, SDHD(NM_003002.2):c.149A>G)

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.111958677A>G
DNA change (hg38) g.112087953A>G
Published as SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.3):c.149A>G (p.H50R)
ISCN -
DB-ID SDHD_000019 See all 6 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) 0.00659 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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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.149A>G r.(?) p.(His50Arg) - -
TIMM8B NM_012459.2 -?/. - c.-1185T>C r.(?) p.(=) - -
C11orf57 NM_018195.3 -?/. - c.*4981A>G r.(=) p.(=) - -