Genomic variant #0000342848

Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.23568546C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID EARS2_000009
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EARS2 NM_001083614.1 +?/. - c.119G>A likely pathogenic r.(?) p.(Arg40Gln)
UBFD1 NM_019116.2 +?/. - c.-518C>T likely pathogenic r.(?) p.(=)