Variant #0000691536 (NC_000013.10:g.35770334C>T, MAB21L1(NM_005584.4):c.*278862G>A)

Chromosome 13
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35770334C>T
DNA change (hg38) -
Published as NBEA(NM_015678.4):c.5261C>T (p.P1754L)
ISCN -
DB-ID NBEA_000040
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_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     
MAB21L1 NM_005584.4 +?/. - c.*278862G>A r.(=) p.(=)
NBEA NM_015678.4 +?/. - c.5261C>T r.(?) p.(Pro1754Leu)