Variant #0000281499 (NC_000011.9:g.68678962T>C, IGHMBP2(NM_002180.2):c.602T>C)

Chromosome 11
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.68678962T>C
DNA change (hg38) g.68911494T>C
Published as IGHMBP2(NM_002180.2):c.602T>C (p.L201S)
ISCN -
DB-ID IGHMBP2_000054 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.77444 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     
IGHMBP2 NM_002180.2 -/. - c.602T>C r.(?) p.(Leu201Ser)