Variant #0000140052 (NC_000016.9:g.16315741del, NC_000016.9(NM_001171.5):c.179-195del (ABCC6))

Chromosome 16
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.16315741del
DNA change (hg38) g.16221884del
Published as -
ISCN -
DB-ID ABCC6_000338
Variant remarks Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID rs72664224
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Tim Hefferon
Database submission license No license selected
Created by Tim Hefferon
Date created 2013-02-16 00:10:40 +01:00 (CET)
Date last edited 2021-09-09 14:48:34 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC6 NM_001171.5 ?/. 1i c.179-195del r.(=) p.(=)


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