Variant #0000503046 (NC_000001.10:g.1475087G>A, TMEM240(NM_001114748.1):c.141C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.1475087G>A
DNA change (hg38) g.1539707G>A
Published as TMEM240(NM_001114748.1):c.141C>T (p.R47=)
ISCN -
DB-ID SSU72_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00014 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM240 NM_001114748.1 -?/. - c.141C>T r.(?) p.(Arg47=)
SSU72 NM_014188.2 -?/. - c.*2359C>T r.(=) p.(=)