Genomic variant #0000246812

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.136221557A>G
DNA change (hg38) g.133354702A>G
Published as SURF1(NM_003172.3):c.280T>C (p.L94=)
ISCN -
DB-ID SURF1_000029 See all 2 reported entries
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) 0.04682 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPL7A NM_000972.2 -/. - c.*3336A>G r.(=) p.(=)
SURF1 NM_003172.3 -/. - c.280T>C r.(?) p.(Leu94=)