Variant #0000538971 (NC_000010.10:g.104263946A>C, SUFU(NM_016169.3):c.37A>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.104263946A>C
DNA change (hg38) g.102504189A>C
Published as SUFU(NM_001178133.1):c.37A>C (p.(Thr13Pro))
ISCN -
DB-ID ACTR1A_000002
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTR1A NM_005736.3 -?/. - c.-1542T>G r.(?) p.(=)
SUFU NM_016169.3 -?/. - c.37A>C r.(?) p.(Thr13Pro)