Genomic variant #0000328880

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.19423476T>G
DNA change (hg38) -
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 (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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