Genomic variant #0000536947

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.136219594G>A
DNA change (hg38) -
Published as SURF1(NM_003172.3):c.543C>T (p.F181=)
ISCN -
DB-ID RPL7A_000007
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) 0.00546 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RPL7A NM_000972.2 -/. - c.*1373G>A benign r.(=) p.(=)
SURF1 NM_003172.3 -/. - c.543C>T benign r.(?) p.(=)