Variant #0000607687 (NC_000002.11:g.228029475G>T, NM_000092.4:c.-854C>A (COL4A4))

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.228029475G>T
DNA change (hg38) g.227164759G>T
Published as -
ISCN -
DB-ID COL4A3_000622
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) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-12-04 14:54:23 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL4A3 NM_000091.4 -?/. - c.33G>T r.(?) p.(Val11=)
COL4A4 NM_000092.4 -?/. - c.-854C>A r.(?) p.(=)


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