Variant #0000609247 (NC_000004.11:g.5693057C>T, NM_147127.4:c.454G>A (EVC2))

Chromosome 4
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.5693057C>T
DNA change (hg38) g.5691330C>T
Published as EVC2(NM_001166136.1):c.214G>A (p.G72R)
ISCN -
DB-ID EVC2_000068
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 14:54:23 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EVC2 NM_147127.4 -?/. - c.454G>A r.(?) p.(Gly152Arg)


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