Variant #0000572551 (NC_000023.10:g.100511098C>T, DRP2(NM_001939.2):c.2247-9C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.100511098C>T
DNA change (hg38) g.101256109C>T
Published as DRP2(NM_001939.2):c.2247-9C>T
ISCN -
DB-ID DRP2_000007 See all 3 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) 0.32656 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DRP2 NM_001939.2 -/. - c.2247-9C>T r.(=) p.(=)