Variant #0000964380 (NC_000007.13:g.107559520A>G, NM_002291.2:c.*4876T>C (LAMB1))

Chromosome 7
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.107559520A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID DLD_000037
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) 2.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2024-02-26 20:06:56 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DLD NM_000108.3 ?/. - c.1440A>G r.(?) p.(Ile480Met)
LAMB1 NM_002291.2 ?/. - c.*4876T>C r.(=) p.(=)


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