Variant #0000542360 (NC_000011.9:g.111958686C>T, SDHD(NM_003002.2):c.158C>T)

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.111958686C>T
DNA change (hg38) g.112087962C>T
Published as SDHD(NM_003002.3):c.158C>T (p.P53L)
ISCN -
DB-ID SDHD_000145 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license No license selected
Created by VKGL-NL_VUmc
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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.158C>T r.(?) p.(Pro53Leu) - -
TIMM8B NM_012459.2 ?/. - c.-1194G>A r.(?) p.(=) - -
C11orf57 NM_018195.3 ?/. - c.*4990C>T r.(=) p.(=) - -