Variant #0000655878 (NC_000007.13:g.73466276_73466287del, NM_000501.2:c.912_923del (ELN))

Chromosome 7
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.73466276_73466287del
DNA change (hg38) g.74051946_74051957del
Published as ELN(NM_001278939.1):c.912_923delTGCAGCTGCAGC (p.A308_A311del)
ISCN -
DB-ID ELN_000149
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 2020-03-23 16:13:27 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ELN NM_000501.2 ?/. - c.912_923del r.(?) p.(Ala308_Ala311del)


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