Variant #0000305532 (NC_000022.10:g.41864647T>C, ACO2(NM_001098.2):c.-504T>C)

Chromosome 22
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.41864647T>C
DNA change (hg38) g.41468643T>C
Published as PHF5A(NM_032758.4):c.11A>G (p.H4R)
ISCN -
DB-ID PHF5A_000001
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 ?/. _1 c.-504T>C r.(?) p.(=)
PHF5A NM_032758.3 ?/. - c.11A>G r.(?) p.(His4Arg)
POLR3H NM_138338.3 ?/. - c.*60640A>G r.(=) p.(=)