Genomic variant #0000536959

Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.136221779G>C
DNA change (hg38) -
Published as SURF1(NM_003172.3):c.140C>G (p.S47C)
ISCN -
DB-ID RPL7A_000015
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RPL7A NM_000972.2 ?/. - c.*3558G>C VUS r.(=) p.(=)
SURF1 NM_003172.3 ?/. - c.140C>G VUS r.(?) p.(Ser47Cys)