Variant #0000980676 (NC_000013.10:g.36220051A>G, NM_005584.4:c.-169776T>C (MAB21L1))

Chromosome 13
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.36220051A>G
DNA change (hg38) -
Published as NBEA(NM_001385012.1):c.7663A>G (p.(Thr2555Ala))
ISCN -
DB-ID NBEA_000085
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:27:30 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAB21L1 NM_005584.4 ?/. - c.-169776T>C r.(?) p.(=)
NBEA NM_015678.4 ?/. - c.7618-345A>G r.(=) p.(=)


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