Variant #0001046026 (NC_000005.9:g.218472T>A, NM_004168.2:c.2T>A (SDHA))

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.218472T>A
DNA change (hg38) -
Published as SDHA(NM_004168.2):c.2T>A (p.(?))
ISCN -
DB-ID CCDC127_000006
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) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-07-08 13:22:38 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHA NM_004168.2 +/. - c.2T>A r.(?) p.? - -
CCDC127 NM_145265.2 +/. - c.-275A>T r.(?) p.(=) - -


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