Variant #0000328880 (NC_000022.10:g.19423476T>G, HIRA(NM_003325.3):c.-4477A>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.19423476T>G
DNA change (hg38) g.19435953T>G
Published as MRPL40(NM_003776.2):c.612T>G (p.(Phe204Leu))
ISCN -
DB-ID MRPL40_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) 5.0E-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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HIRA NM_003325.3 ?/. - c.-4477A>C r.(?) p.(=)
MRPL40 NM_003776.2 ?/. - c.612T>G r.(?) p.(Phe204Leu)
C22orf39 NM_173793.4 ?/. - c.*8312A>C r.(=) p.(=)