Variant #0000281565 (NC_000012.11:g.108956417T>G, ISCU(NM_014301.3):c.-153T>G)

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.108956417T>G
DNA change (hg38) g.108562641T>G
Published as ISCU(NM_213595.4):c.19T>G (p.F7V)
ISCN -
DB-ID ISCU_000004
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) 0.86403 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ISCU NM_014301.3 -/. - c.-153T>G r.(?) p.(=)
SART3 NM_014706.3 -/. - c.-1487A>C r.(?) p.(=)