Variant #0000538970 (NC_000010.10:g.104263940G>C, SUFU(NM_016169.3):c.31G>C)

Chromosome 10
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.104263940G>C
DNA change (hg38) g.102504183G>C
Published as SUFU(NM_001178133.1):c.31G>C (p.(Gly11Arg))
ISCN -
DB-ID ACTR1A_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTR1A NM_005736.3 -?/. - c.-1536C>G r.(?) p.(=)
SUFU NM_016169.3 -?/. - c.31G>C r.(?) p.(Gly11Arg)