Variant #0000800256 (NC_000002.11:g.198266235A>G)

Chromosome	2
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.198266235A>G
DNA change (hg38)	g.197401511A>G
Published as	SF3B1(NM_012433.3):c.2385T>C (p.C795=)
ISCN	-
DB-ID	SF3B1_000013
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)	Retrieve
Owner	VKGL-NL_Rotterdam
Database submission license	Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by	VKGL-NL_Rotterdam
Date created	2021-09-17 14:40:49 +02:00 (CEST)
Date last edited	2025-11-01 13:22:20 +01:00 (CET)

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Variant on transcripts

No variants on transcripts found!