Variant #0000298149 (NC_000002.11:g.198257795T>C)

Chromosome	2
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.198257795T>C
DNA change (hg38)	g.197393071T>C
Published as	SF3B1(NM_012433.4):c.3657A>G (p.V1219=)
ISCN	-
DB-ID	SF3B1_000002
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)	0.65841 View details
Owner	VKGL-NL_Groningen
Database submission license	Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by	VKGL-NL_Groningen
Date created	2018-01-15 20:58:59 +01:00 (CET)
Date last edited	2025-11-01 13:22:20 +01:00 (CET)

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Variant on transcripts

No variants on transcripts found!