Variant #0000329881 (NC_000004.11:g.5713196C>T, NM_153717.2:c.89C>T (EVC))

Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.5713196C>T
DNA change (hg38) g.5711469C>T
Published as EVC(NM_153717.2):c.89C>T (p.(Pro30Leu)), EVC(NM_153717.3):c.89C>T (p.P30L)
ISCN -
DB-ID EVC_000002 See all 3 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) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EVC2 NM_147127.4 ?/. - c.-2956G>A r.(?) p.(=)
EVC NM_153717.2 ?/. - c.89C>T r.(?) p.(Pro30Leu)


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