Variant #0001038709 (NC_000011.9:g.68671424G>A, NM_002180.2:c.4G>A (IGHMBP2))

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.68671424G>A
DNA change (hg38) -
Published as IGHMBP2(NM_002180.3):c.4G>A (p.(Ala2Thr))
ISCN -
DB-ID IGHMBP2_000255
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) 4.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGHMBP2 NM_002180.2 ?/. - c.4G>A r.(?) p.(Ala2Thr)
MRPL21 NM_181514.1 ?/. - c.-146C>T r.(?) p.(=)


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