Variant #0000863378 (NC_000013.10:g.35745476G>T, MAB21L1(NM_005584.4):c.*303720C>A)

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.35745476G>T
DNA change (hg38) -
Published as NBEA(NM_015678.4):c.4310G>T (p.R1437L)
ISCN -
DB-ID NBEA_000059
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) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAB21L1 NM_005584.4 ?/. - c.*303720C>A r.(=) p.(=)
NBEA NM_015678.4 ?/. - c.4310G>T r.(?) p.(Arg1437Leu)