Variant #0000503048 (NC_000001.10:g.1475108dup, TMEM240(NM_001114748.1):c.120dup)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1475108dup
DNA change (hg38) g.1539728dup
Published as TMEM240(NM_001114748.1):c.120dupG (p.H41Afs*192)
ISCN -
DB-ID SSU72_000002
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM240 NM_001114748.1 +?/. - c.120dup r.(?) p.(His41AlafsTer192)
SSU72 NM_014188.2 +?/. - c.*2338dup r.(?) p.(=)