Variant #0000648096 (NC_000011.9:g.111958677A>G, SDHD(NM_003002.2):c.149A>G)

Individual ID 00290239
Chromosome 11
Allele Parent #1
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.111958677A>G
DNA change (hg38) g.112087953A>G
Published as -
ISCN -
DB-ID SDHD_000019 See all 6 reported entries
Variant remarks conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs11214077
Origin Germline
Segregation -
Frequency 7/2793 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00659 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291407 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq