Variant #0000849774 (NC_000002.11:g.227985862A>G, NM_000092.4:c.195T>C (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.227985862A>G
DNA change (hg38) -
Published as COL4A4(NM_000092.4):c.195T>C (p.G65=)
ISCN -
DB-ID COL4A4_000006 See all 4 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) 0.00077 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2022-05-09 15:40:45 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL4A4 NM_000092.4 -?/. - c.195T>C r.(?) p.(Gly65=)


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