Variant #0000538973 (NC_000010.10:g.104263980del, SUFU(NM_016169.3):c.71del)

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.104263980del
DNA change (hg38) g.102504223del
Published as SUFU(NM_001178133.1):c.71del (p.(Pro24ArgfsTer72)), SUFU(NM_016169.3):c.71delC (p.P24Rfs*72)
ISCN -
DB-ID ACTR1A_000004 See all 2 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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license No license selected
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTR1A NM_005736.3 +/. - c.-1570del r.(?) p.(=)
SUFU NM_016169.3 +/. - c.71del r.(?) p.(Pro24ArgfsTer72)