Variant #0000546361 (NC_000012.11:g.108959177A>G, ISCU(NM_014301.3):c.234A>G)

Chromosome 12
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.108959177A>G
DNA change (hg38) g.108565401A>G
Published as ISCU(NM_001320042.1):c.309A>G (p.S103=)
ISCN -
DB-ID SART3_000011
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 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-07-02 18:07:01 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ISCU NM_014301.3 -?/. - c.234A>G r.(?) p.(Ser78=)
SART3 NM_014706.3 -?/. - c.-4247T>C r.(?) p.(=)