Variant #0000174278 (NC_000009.11:g.133914430C>T, NM_006059.3:c.1156C>T (LAMC3))

Individual ID 00107883
Chromosome 9
Allele Parent #2
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.133914430C>T
DNA change (hg38) g.131039043C>T
Published as -
ISCN -
DB-ID LAMC3_000004
Variant remarks -
Reference PubMed: Barak 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2011-06-28 09:25:42 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LAMC3 NM_006059.3 +?/. 5 c.1156C>T r.(?) p.(Gln386*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108352 DNA SEQ - - LAMC3 2 Johan den Dunnen


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