Genomic variant #0000536957

Chromosome 9
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.136221568A>G
DNA change (hg38) g.133354713A>G
Published as SURF1(NM_003172.2):c.269T>C (p.(Leu90Pro)), SURF1(NM_003172.3):c.269T>C (p.L90P)
ISCN -
DB-ID RPL7A_000014 See all 3 reported entries
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_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPL7A NM_000972.2 +?/. - c.*3347A>G r.(=) p.(=)
SURF1 NM_003172.3 +?/. - c.269T>C r.(?) p.(Leu90Pro)