Variant #0000302018 (NC_000011.9:g.111959601G>A, SDHD(NM_003002.2):c.180G>A)

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111959601G>A
DNA change (hg38) g.112088877G>A
Published as SDHD(NM_003002.3):c.180G>A (p.K60=)
ISCN -
DB-ID SDHD_000174 See all 2 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) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license No license selected
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHD NM_003002.2 ?/. - c.180G>A r.(?) p.(Lys60=) - -
TIMM8B NM_012459.2 ?/. - c.-2109C>T r.(?) p.(=) - -
C11orf57 NM_018195.3 ?/. - c.*5905G>A r.(=) p.(=) - -