Variant #0000320966 (NC_000001.10:g.150480767dup, NC_000001.10(NM_004425.3):c.70+12dup (ECM1))

Chromosome 1
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.150480767dup
DNA change (hg38) g.150508291dup
Published as ECM1(NM_001202858.1):c.70+7_70+8insG (p.(=))
ISCN -
DB-ID ECM1_000001
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     
ECM1 NM_004425.3 ?/. - c.70+12dup r.(=) p.(=)
TARS2 NM_025150.3 ?/. - c.*1227dup r.(?) p.(=)


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