Variant #0000853667 (NC_000013.10:g.36229098T>A, MAB21L1(NM_005584.4):c.-178823A>T)

Chromosome 13
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.36229098T>A
DNA change (hg38) -
Published as NBEA(NM_015678.4):c.8079T>A (p.L2693=)
ISCN -
DB-ID NBEA_000065
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) 0.00025 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAB21L1 NM_005584.4 -?/. - c.-178823A>T r.(?) p.(=)
NBEA NM_015678.4 -?/. - c.8079T>A r.(?) p.(Leu2693=)