Variant #0000675618 (NC_000001.10:g.209799066G>A, LAMB3(NM_000228.2):c.1903C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.209799066G>A
DNA change (hg38) -
Published as LAMB3(NM_000228.3):c.1903C>T (p.R635*), LAMB3(NM_001017402.1):c.1903C>T (p.R635*)
ISCN -
DB-ID LAMB3_000005 See all 5 reported entries
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) 0.00051 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2023-07-07 10:10:56 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LAMB3 NM_000228.2 +/. - c.1903C>T r.(?) p.(Arg635Ter)