Variant #0000297901 (NC_000012.11:g.108954823C>T, ISCU(NM_014301.3):c.-1747C>T)

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.108954823C>T
DNA change (hg38) g.108561047C>T
Published as SART3(NM_014706.4):c.108G>A (p.R36=)
ISCN -
DB-ID SART3_000005
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) 0.82134 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ISCU NM_014301.3 -/. - c.-1747C>T r.(?) p.(=)
SART3 NM_014706.3 -/. - c.108G>A r.(?) p.(Arg36=)