Variant #0000354838 (NC_000002.11:g.228172594T>C, NM_000091.4:c.4421T>C (COL4A3))

Individual ID 00153767
Chromosome 2
Allele Both (homozygous)
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.228172594T>C
DNA change (hg38) g.227307878T>C
Published as -
ISCN -
DB-ID COL4A3_000093 See all 20 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00271 View details
Owner Judy Savige
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-02-21 08:49:46 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL4A3 NM_000091.4 +?/. 48 c.4421T>C r.(?) p.(Leu1474Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000154628 DNA SEQ - - COL4A3 2 Judy Savige


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